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 https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
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
component
code: Genomic DNA change (gHGVS)
value: NC_000010.10:g.96540410G>A
component
code: Genomic source class [Type]
value: Germline
component
code: Allelic state
value: homozygous
component
code: Gene studied [ID]
value: CYP2C19
component
code: DNA change type
value: substitution
component
code: Allelic read depth
value: >20
component
code: Variant Confidence Status
value: High