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: VariantExample

Generated Narrative: Observation VariantExample

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Alanine B. Everyone Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))

effective: 2019-04-01

performer: Organization some lab

value: Present

component

code: Genomic reference sequence [ID]

value: NC_000017.11

component

code: Ref nucleotide

value: ATTGAGGGAAAACACAT

component

code: Alt allele

value: T

component

code: Genomic allele start-end

value: 39723965-?

component

code: Genomic coord system

value: 0-based interval counting