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: Pgx-var-1020

Generated Narrative: Observation Pgx-var-1020

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: 96702047-96702047

component

code: Genomic ref allele [ID]

value: C

component

code: Genomic alt allele [ID]

value: C

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: High