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-1021

Generated Narrative: Observation Pgx-var-1021

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 reference sequence [ID]

value: b37 Chr10

component

code: Genomic coordinate system [Type]

value: 1-based character counting

component

code: Genomic allele start-end

value: 96741053-96741053

component

code: Genomic ref allele [ID]

value: A

component

code: Genomic alt allele [ID]

value: A

component

code: Genomic source class [Type]

value: Germline

component

code: Allelic state

value: homozygous

component

code: Gene studied [ID]

value: CYP2C9

component

code: DNA change type

value: wild type

component

code: Allelic read depth

value: >20

component

code: Variant Confidence Status

value: Intermediate