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-1019"
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)
note: This variant was confirmed with SANGER sequencing
method: Sequencing (LOINC#LA26398-0)
component
code: Struct var HGVS name (LOINC#81290-9)
value: NC_000016.9:g.31096368G>T (Human Genome Variation Society nomenclature#NC_000016.9:g.31096368G>T)
component
code: Genomic source class (LOINC#48002-0)
value: Germline (LOINC#LA6683-2)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Gene studied ID (LOINC#48018-6)
value: VKORC1 (HUGO Gene Nomenclature Committee Genes#HGNC:23663)
component
code: DNA Change Type (LOINC#48019-4)
value: substitution (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)