Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Example Observation: Pgx-var-1019

Generated Narrative

Resource "Pgx-var-1019"

Profile: Variant

status: final

category: Laboratory (Observation Category Codes#laboratory)

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

subject: Patient/CGPatientExample01 " EVERYMAN"

effective: 2020-01-01

value: Present (LOINC#LA9633-4)

note: This variant was confirmed with SANGER sequencing

method: Sequencing (LOINC#LA26398-0)

component

code: Genomic DNA change (gHGVS) (LOINC#81290-9)

value: NC_000016.9:g.31096368C>T (Human Genome Variation Society nomenclature#NC_000016.9:g.31096368C>T)

component

code: Genomic source class [Type] (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 (geneId#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)