Genomics Reporting Implementation Guide
3.0.0 - release International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example Observation: Pgx-var-1019

Generated Narrative: Observation Pgx-var-1019

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

note: This variant was confirmed with SANGER sequencing

method: Sequencing

component

code: Genomic DNA change (gHGVS)

value: NC_000016.9:g.31096368G>T

component

code: Genomic source class [Type]

value: Germline

component

code: Allelic state

value: heterozygous

component

code: Gene studied [ID]

value: VKORC1

component

code: DNA change type

value: substitution

component

code: Allelic read depth

value: >20

component

code: Variant Confidence Status

value: High