Table 1 Secondary findings from genome sequencing reviewed by the GM-MDT

From: “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

Gene

Condition associated

Variant interpretation

GM-MDT decision

BRCA2 (heterozygous)

Breast/ovarian cancer

Highly likely pathogenic

Report

RYR1 (heterozygous)

Malignant hyperthermia

Uncertain significance

No report

KCNQ1 (heterozygous)

Long QT syndrome

Likely/highly likely pathogenic

Report

  1. GM-MDT, Genomic Medicine Multidisciplinary Team.
Back to article page