Table 3

Total evidence elements included within current versions of ACMG-based specifications used by CanVIG-UK for CSG variant interpretation

SpecificationEvidence for pathogenicityEvidence for benignityTotal
Very strongStrongModerateSupportingSupportingStrongStand-alone
ACMG framework 20153 157574130
UK-ACGS rare disease specification 20204 410131574154
CanVIG-UK specification 20205 59131595157
ClinGen CDH1 specification V28 477554234
ClinGen PTEN specification V27 467584135
ClinGen TP53 specification V16 3710754137
  • ACMG, American College of Medical Genetics; CanVIG-UK, Cancer Variant Interpretation Group UK; CSG, cancer susceptibility gene; UK-ACGS, UK Association for Clinical Genomic Science.