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

MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions

Example Observation: mii-exa-molgen-diagnostische-implikation-srcc-ctnna1

English

Profiles: MII PR MolGen Diagnostische Implikation version: 2027.0.0-ballot.1, Diagnostic Implication version: 3.0.0

Related artifact: No display for RelatedArtifact (type: citation; citation: ClinGen; url: https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2509)

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))

effective: 2022-11-30

performer: Practitioner Dr. Daniel Schmidt(official)

derivedFrom: Observation Genetic variant assessment

component

code: Conclusion Text

value: Diese Variante wird nach den ACMG/AMP-Kriterien zusammenfasssend als pathogen bewertet entsprechend IARC Class 5.

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Hereditary diffuse carcinoma of stomach (disorder)