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 molec-conseq1
status: Final
category: Laboratory, Genetics
code: Molecular Consequence
subject: Alanine B. Everyone Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))
effective: 2023-06-01
performer: Organization Some lab
interpretation: High
derivedFrom: Observation Genetic variant assessment
component
code: Transcript reference sequence [ID]
value: NM_001395525.1
component
code: Feature Consequence
value: splice_donor_variant
component
code: Functional Effect
value: loss_of_function_variant