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-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