Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example Bundle: bundle-CYP2C19

Bundle bundle-CYP2C19 of type transaction


Entry 1 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe01

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca62b5"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96448129-?


Entry 2 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe02

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6342"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96448380-?


Entry 3 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe03

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca63bf"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: C

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96448994-?


Entry 4 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe04

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca643a"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96454156-?


Entry 5 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe05

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca64b5"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: homozygous (LOINC#LA6705-3)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96454241-?


Entry 6 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe06

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6531"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96456161-?


Entry 7 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe07

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca65ac"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96462109-?


Entry 8 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe08

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6627"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96464087-?


Entry 9 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe09

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca66a1"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: homozygous (LOINC#LA6705-3)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: C

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96465938-?


Entry 10 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe10

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca671c"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96466078-?


Entry 11 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe11

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6797"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96466342-?


Entry 12 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe12

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6812"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: homozygous (LOINC#LA6705-3)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96466824-?


Entry 13 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe13

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca688c"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: homozygous (LOINC#LA6705-3)

component

code: Ref nucleotide (LOINC#69547-8)

value: T

component

code: Alt allele (LOINC#69551-0)

value: TATA

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96466884-?


Entry 14 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe14

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6922"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: T

component

code: Alt allele (LOINC#69551-0)

value: C

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96468808-?


Entry 15 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe15

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca69a3"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96469632-?


Entry 16 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe16

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6a1d"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96469669-?


Entry 17 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe17

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6a97"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: C

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96470954-?


Entry 18 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe18

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6b11"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96475154-?


Entry 19 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe19

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6b86"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: C

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96476401-?


Entry 20 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe20

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6c31"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96477558-?


Entry 21 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe21

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6ccc"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96478608-?


Entry 22 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe22

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6d4b"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96480890-?


Entry 23 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe23

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6de3"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: homozygous (LOINC#LA6705-3)

component

code: Ref nucleotide (LOINC#69547-8)

value: GT

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96484540-?


Entry 24 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe24

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6e86"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96484599-?


Entry 25 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe25

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6f11"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: T

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96484998-?


Entry 26 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe26

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca6fa5"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: homozygous (LOINC#LA6705-3)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96485680-?


Entry 27 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe27

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7025"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96486504-?


Entry 28 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe28

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca70a2"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: CAA

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96487380-?


Entry 29 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe29

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7141"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96487451-?


Entry 30 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe30

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca71bf"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96487749-?


Entry 31 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe31

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca724a"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96488888-?


Entry 32 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe32

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca72e4"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96490629-?


Entry 33 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe33

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7377"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: C

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96491109-?


Entry 34 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe34

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca740a"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96491772-?


Entry 35 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe35

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7497"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96493358-?


Entry 36 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe36

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7513"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96493709-?


Entry 37 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe37

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca758e"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96495232-?


Entry 38 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe38

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7609"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96499931-?


Entry 39 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe39

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7684"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96500106-?


Entry 40 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe40

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca76ff"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96503400-?


Entry 41 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe41

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7779"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96504557-?


Entry 42 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe42

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca77f4"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: T

component

code: Alt allele (LOINC#69551-0)

value: TA

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96504737-?


Entry 43 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe43

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca786f"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: T

component

code: Alt allele (LOINC#69551-0)

value: C

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96506173-?


Entry 44 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe44

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca78eb"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96509779-?


Entry 45 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe45

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7967"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96511926-?


Entry 46 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe46

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca79ef"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: GA

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96512422-?


Entry 47 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe47

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7a79"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: CA

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96513643-?


Entry 48 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe48

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7afb"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96515933-?


Entry 49 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe49

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7bcb"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: homozygous (LOINC#LA6705-3)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96516778-?


Entry 50 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe50

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7c49"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: homozygous (LOINC#LA6705-3)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96517909-?


Entry 51 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe51

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7cd3"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96517959-?


Entry 52 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe52

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7d94"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96519061-?


Entry 53 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe53

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7e45"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: homozygous (LOINC#LA6705-3)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96521422-?


Entry 54 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe54

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7ed6"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96521657-?


Entry 55 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe55

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7f69"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96522989-?


Entry 56 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe56

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca7ffd"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: homozygous (LOINC#LA6705-3)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96525536-?


Entry 57 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe57

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca8085"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: T

component

code: Alt allele (LOINC#69551-0)

value: TTGTA

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96526061-?


Entry 58 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe58

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca811f"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96526109-?


Entry 59 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe59

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca81b9"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: AT

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96527152-?


Entry 60 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe60

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca8252"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96527334-?


Entry 61 - fullUrl = urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe01

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca82e4"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96527722-?


Entry 62 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe62

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca837c"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: homozygous (LOINC#LA6705-3)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96529912-?


Entry 63 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe63

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca8410"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96530504-?


Entry 64 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe64

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca8493"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: T

component

code: Alt allele (LOINC#69551-0)

value: C

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96532327-?


Entry 65 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe65

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca8514"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96532545-?


Entry 66 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe66

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca8596"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96532688-?


Entry 67 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe67

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca8618"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96533050-?


Entry 68 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe68

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca869c"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: G

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96534584-?


Entry 69 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe69

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca871e"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: T

component

code: Alt allele (LOINC#69551-0)

value: C

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96535689-?


Entry 70 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe70

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca879f"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: A

component

code: Alt allele (LOINC#69551-0)

value: G

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96535743-?


Entry 71 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe71

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca8820"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: ATTC

component

code: Alt allele (LOINC#69551-0)

value: TATT

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96536045-?


Entry 72 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe72

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca88a5"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: T

component

code: Alt allele (LOINC#69551-0)

value: A

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96536455-?


Entry 73 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe73

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca8927"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96536708-?


Entry 74 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe74

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "dv-5c7e9e1ca89a8"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Present (LOINC#LA9633-4)

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

code: Genomic reference sequence ID (LOINC#48013-7)

value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)

component

code: Allelic state (LOINC#53034-5)

value: heterozygous (LOINC#LA6706-1)

component

code: Ref nucleotide (LOINC#69547-8)

value: C

component

code: Alt allele (LOINC#69551-0)

value: T

component

code: Genomic coord system (LOINC#92822-6)

value: 1-based character counting (LOINC#LA30102-0)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 96537137-?


Entry 75 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe75

Request:

POST Observation

Resource Observation:

Generated Narrative: Observation

ResourceObservation "sid-5c7e9e1ca8a29"

Profile: Sequence Phase Relationship

status: FINAL

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Allelic phase (LOINC#82120-7)

subject: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

effective: 2019-03-05

issued: Mar 5, 2019, 4:04:44 PM

performer: See on this page: urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

value: Cis (Sequence Phase Relationship Codes#Cis)

derivedFrom:


Entry 76 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeaa

Request:

POST DiagnosticReport

Resource DiagnosticReport:

Genetic analysis report (Genetics)

Report Details

CodeValueWhen ForReported
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Genetic variant assessmentPresent2019-03-052019-03-05 16:04:44+0000
Allelic phaseCis2019-03-052019-03-05 16:04:44+0000


Entry 77 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

Request:

POST Organization

Resource Organization:

Generated Narrative: Organization

ResourceOrganization "performingLab"

name: aTypingLab Inc

alias: aTL

Contacts

-TelecomAddress
*ph: 1-800-555-1234(WORK)123 Main St, Sometown, ND 99999(work)


Entry 78 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

Request:

POST Patient

Resource Patient:

Anonymous Patient Male, DoB: 1986-12-31