Table 2 IARC classification system for genetic variants
Class | Description | Probability of being pathogenic (5) | Counseling consequences |
|---|---|---|---|
1 | Benign | < 0.001 | Consider as “no mutation detected” |
2 | Likely benign | 0.001–0.049 | Consider as “no mutation detected” |
3 | Uncertain | 0.05–0.949 | Survey depending on family history |
4 | Likely pathogenic | 0.95–0.99 | Ascertained high risk regimen |
5 | Pathogenic | > 0.99 | Ascertained high risk regimen |