Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot 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 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of and changes regularly. See the Directory of published versions

Example Observation: ExampleGermlineDEL

Generated Narrative: Observation ExampleGermlineDEL

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


code: DNA change type

value: deletion


code: Allelic state

value: heterozygous


code: Genomic ref allele [ID]

value: C


code: Genomic source class [Type]

value: Germline


code: Genomic reference sequence [ID]

value: NC_000001.10


code: Genomic coordinate system [Type]

value: 1-based character counting


code: Structural variant inner start and end

value: 756295-756329