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 20153157574130
UK-ACGS rare disease specification 20204410131574154
CanVIG-UK specification 2020559131595157
ClinGen CDH1 specification V28477554234
ClinGen PTEN specification V27467584135
ClinGen TP53 specification V163710754137
  • 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.