Template: GENOC - Familial risk
Tumour genomics report 1.0.0-beta.14
Tue Oct 21 2025
Template: GENOC - Familial risk
Tumour genomics report
1.0.0-beta.14
Tue Oct 21 2025
  Composition: Familial risk Tumour genomics report
    attributes
      category [Coded text mandatory]
      composer [Party mandatory]
    context
      start_time [Date/time mandatory]
      setting [Coded text mandatory]
    Laboratory test result OBSERVATION
      time [Date/time mandatory]
      Test name [Text mandatory]
    Specimen
      Specimen type [Text ]
      Laboratory specimen identifier [Identifier ]
      Laboratory run identifier [Text ]
      Clinical information provided [Text ]
    Laboratory result
      Analyte name [Text ]
    Genomic variant result **[multiple]**
    dbSNP **[multiple]**
      Knowledge base name [Text mandatory]
      Knowledge base URI [External URI ]
      Item name [Text ]
    Simple variant
      Chromosome label [Coded text mandatory]
      Start position of variant [Count ]
      Variant type [Text ]
    Transcript **[multiple]**
    Transcript extension
      Transcript biotype [Text ]
      Consequence [Coded text multiple]
      DNA change (c.ClinVar) [Parsable text ]
      Amino acid change (p.Clinvar) [Parsable text ]
    Predicted impact
    Clinvar
      Knowledge base name [Text mandatory]
      Knowledge base URI [External URI ]
      Item name [Text ]
      Item URI [External URI ]
    Functional impact
      Impact [Text mandatory]
    ESMO
      Knowledge base name [Text mandatory]
      Knowledge base URI [External URI ]
      Item name [Text ]
    Gene
      Gene symbol [Text mandatory]
      ACMG classification [Coded text ]
      Best transcript candidate [Text ]
      Read depth [Count ]
      Allele depth [Count ]
      Allele frequency [Quantity ]
      Genotype [Text ]
      Allelic state [Coded text ]
    Sourcefile
      Content [Multimedia ]
      Content name [Text ]
      Identifier [Text ]
    Review details
      Date reviewed [Date/time ]
      Reviewer name [Text ]
      Review status [Text ]
      Overall recommendation [Text ]
      Laboratory internal identifier [Text ]
      Test method [Text ]