Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001015442 | SCV001176274 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Labcorp Genetics |
RCV002550806 | SCV002465687 | likely benign | not provided | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001015442 | SCV002535551 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-18 | criteria provided, single submitter | curation |