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

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Beispiel Observation: KMT2A Pathogenic Variant from WES

German

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

status: Final

category: Laboratory, Genetik

code: Genetic variant assessment

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Krankenaktennummer (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