MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Example Observation: KMT2A Pathogenic Variant from WES

English

Profile: MII PR MolGen Variante version: 2027.0.0-ballot.1

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

effective: 2024-01-10

value: Present

component

code: Gene studied [ID]

value: KMT2A

component

code: DNA change (c.HGVS)

value: NM_001197104.2:c.3463C>T

component

code: Amino acid change (pHGVS)

value: p.(Arg1155Ter)

component

code: Allelic read depth

value: 45 reads (Details: UCUM code1 = '1')

component

code: Variant confidence status

value: High