North West Genomic Medicine Service Alliance
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DRAFT Implementation Guide

This is for collaboration and discussion purposes and is subject to change.

North West Genomic Medicine Service Alliance - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Example Observation: Genomic Report BRCA1 Variant Example

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Octavia CHISLETT

value: Present

method: Sequencing

component

code: Genomic reference sequence [ID]

value: BRCA1

component

code: Allelic state

value: Heterozygous

component

code: DNA change

value: BRCA1:c.3143delG p.(Gly1048ValfsTer14)