Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) 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: VariantExample2

Generated Narrative: Observation VariantExample2

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))

effective: 2019-04-01

performer: Organization some lab

value: Present

method: Sequencing

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: Genomic allele start-end

value: 96527334-?