Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example Observation: Example - Variant2

Generated Narrative

category: Laboratory

code: Genetic variant assessment

subject: Generated Summary: Medical Record Number: m123 (USUAL); Adam B. Everyman ; gender: male; birthDate: 1951-01-20

effective: 2019-04-01

value: Present

method: Sequencing

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: C

component

code: Alt allele

value: A

component

code: Variant exact start and end

value: 96527334-?