Total evidence elements included within current versions of ACMG-based specifications used by CanVIG-UK for CSG variant interpretation
| Specification | Evidence for pathogenicity | Evidence for benignity | Total | |||||
| Very strong | Strong | Moderate | Supporting | Supporting | Strong | Stand-alone | ||
| ACMG framework 20153 | 1 | 5 | 7 | 5 | 7 | 4 | 1 | 30 |
| UK-ACGS rare disease specification 20204 | 4 | 10 | 13 | 15 | 7 | 4 | 1 | 54 |
| CanVIG-UK specification 20205 | 5 | 9 | 13 | 15 | 9 | 5 | 1 | 57 |
| ClinGen CDH1 specification V28 | 4 | 7 | 7 | 5 | 5 | 4 | 2 | 34 |
| ClinGen PTEN specification V27 | 4 | 6 | 7 | 5 | 8 | 4 | 1 | 35 |
| ClinGen TP53 specification V16 | 3 | 7 | 10 | 7 | 5 | 4 | 1 | 37 |
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.