From: Cancer Genetics Overview (PDQ®)
PDQ Cancer Information Summaries [Internet].
Bethesda (MD): National Cancer Institute (US); 2002-.
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Table 1. Variant Classification for Pathogenicity
| Type of Variant | Description |
|---|---|
| Pathogenic | Directly contributes to the development of disease. Additional evidence is not expected to alter the classification of this variant. [Note: Not all pathogenic variants are fully penetrant.] |
| Likely pathogenic | Very likely to contribute to the development of disease, but scientific evidence is currently insufficient to prove this conclusively. |
| Uncertain significance | There is not enough information at this time to support a more definitive classification of this variant. |
| Likely benign | Not expected to have a major effect on disease, but the scientific evidence is currently insufficient to prove this conclusively. |
| Benign | Does not cause disease. Additional evidence is not expected to alter classification of this variant. |
Adapted from Richards et al.[6]