Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000466616 | SCV000563124 | likely benign | Renal cell carcinoma | 2023-09-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548199 | SCV001768066 | likely benign | not provided | 2020-11-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402366 | SCV002706677 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-19 | 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. |