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 https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example Parameters: FindSubjectMolecConseqOutput

Parameters

consequence

Observation/MC1

NM_001395525.1:c.-281+2T>C - intronic_variant:loss_of_function_variant
consequence

Observation/MC2

NM_001366781.1:c.90T>C - synonymous_variant
consequence

Observation/MC3

Molecular Consequence
consequence

Observation/MC4

Molecular Consequence
variant

Observation/variantExampleMC

Variant