Classification of genetic variants
| Classification . | Likelihood of being pathogenic . | Implications for management . | Implications for family members . |
|---|---|---|---|
| Pathogenic | >0.99 | Follow management guidelines for syndrome | Offer testing to at-risk relatives and related bone marrow donors |
| Likely pathogenic | 0.95-0.99 | Follow management guidelines for syndrome | Offer testing to at-risk relatives and related bone marrow donors |
| Uncertain | 0.05-0.949 | Do not consider in management planning | Do not test at-risk relatives or related bone marrow donors |
| Likely not pathogenic | 0.001-0.049 | Do not consider in management planning | Do not test at-risk relatives or related bone marrow donors |
| Not pathogenic | <0.001 | Do not consider in management planning | Do not test at-risk relatives or related bone marrow donors |
| Classification . | Likelihood of being pathogenic . | Implications for management . | Implications for family members . |
|---|---|---|---|
| Pathogenic | >0.99 | Follow management guidelines for syndrome | Offer testing to at-risk relatives and related bone marrow donors |
| Likely pathogenic | 0.95-0.99 | Follow management guidelines for syndrome | Offer testing to at-risk relatives and related bone marrow donors |
| Uncertain | 0.05-0.949 | Do not consider in management planning | Do not test at-risk relatives or related bone marrow donors |
| Likely not pathogenic | 0.001-0.049 | Do not consider in management planning | Do not test at-risk relatives or related bone marrow donors |
| Not pathogenic | <0.001 | Do not consider in management planning | Do not test at-risk relatives or related bone marrow donors |
Adapted with permission from the International Agency for Research on Cancer Unclassified Genetic Variants Working Group.34