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
Generated Narrative: Observation
Resource Observation "Pgx-var-1016"
Profile: Variant
status: final
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic var assess (LOINC#69548-6)
subject: Patient/CGPatientExample01 " EVERYMAN"
effective: 2019-04-01
performer: Organization/ExampleOrg "some lab"
value: Present (LOINC#LA9633-4)
method: Sequencing (LOINC#LA26398-0)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: b37 Chr10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Gen allele loc ID (LOINC#81254-5)
value: 96541616-96541616
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic source class (LOINC#48002-0)
value: Germline (LOINC#LA6683-2)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Gene studied ID (LOINC#48018-6)
value: CYP2C19 (HUGO Gene Nomenclature Committee Genes#HGNC:2621)
component
code: DNA Change Type (LOINC#48019-4)
value: wild type (sequenceontology.org#SO:1000002)
component
code: Allelic read depth (LOINC#82121-5)
value: >20
component
code: Variant Confidence Status (To Be Determined Codes#variant-confidence-status)
value: High (Variant Confidence Status Codes#high)