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

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Beispiel Observation: Variante SMO CNV

German

Profiles: MII PR MolGen Variante version: 2027.0.0-ballot.1, Variant version: 3.0.0

status: Final

category: Laboratory, Genetik

code: Genetic variant assessment

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))

effective: 2022-03-16

value: Present

method: Analysepipeline XXX, Auswertungssoftware XXX, Prozessierungssystem XXX

component

code: Gene studied [ID]

value: SMO

component

code: DNA change type

value: copy_number_gain

component

code: Genomic structural variant copy number

value: 6 1 (Details: UCUM code1 = '1')

component

code: DNA region name [Identifier]

value: Ex 1-10

component

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

value: Chromosome 7

component

code: Cytogenetic (chromosome) location

value: 7q32.1

component

code: Sample variant allelic frequency [NFr]

value: 55 % (Details: UCUM code% = '%')

component

code: Laboratory device Detection limit

value: >95 % (Details: UCUM code% = '%')