Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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 Observation: ZFHX3-uncertain-var

Page standards status: Informative

Profile: Variant

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --> (ongoing)))

effective: 2023-02-01

performer: Practitioner Test Dolin

value: Present

method: Sequencing

> component

> code: Amino acid change (pHGVS)

> value: NP_008816.3:p.G585S

> component

> code: Transcript reference sequence [ID]

> value: NM_006885.4

> component

> code: Allelic read depth

> value: 212 reads per base pair (Details: UCUM code1 = '1')

> component

> code: DNA change (c.HGVS)

> value: NM_006885.4:c.1753G>A

> component

> code: Gene studied [ID]

> value: ZFHX3

> component

> code: Genomic alt allele [ID]

> value: T

> component

> code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method

> value: Chromosome 16

> component

> code: Genomic allele start-end

> value: 72992292-72992292

> component

> code: Genomic reference sequence [ID]

> value: NC_000016.9

> component

> code: Genomic ref allele [ID]

> value: C

> component

> code: Genomic DNA change (gHGVS)

> value: NC_000016.9:g.72992292C>T

> component

> code: Genomic source class [Type]

> value: Somatic

> component

> code: Sample variant allelic frequency [NFr]

> value: 0.1 decimal