Genomics Reporting Implementation Guide (STU1)

This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example - Variant with ACMG Screening

Format(s):

Narrative view

Generated Narrative with Details

id: AnnotationExample

meta:

contained: ,

status: final

code: Master HL7 genetic variant reporting panel (Details : {LOINC code '81247-9' = 'Master HL7 genetic variant reporting panel', given as 'Master HL7 genetic variant reporting panel'})

result:

  • unknown resource contained
  • unknown resource contained