Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot 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 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of and changes regularly. See the Directory of published versions

Example Observation: Pgx-var-1015

Generated Narrative: Observation Pgx-var-1015

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


code: Genomic DNA change (gHGVS)

value: NC_000010.10:g.96540410G>A


code: Genomic source class [Type]

value: Germline


code: Allelic state

value: homozygous


code: Gene studied [ID]

value: CYP2C19


code: DNA change type

value: substitution


code: Allelic read depth

value: >20


code: Variant Confidence Status

value: High