Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hereditary Cancer Group, |
RCV001779203 | SCV001623538 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2021-05-03 | criteria provided, single submitter | curation | |
Invitae | RCV001859338 | SCV002109381 | pathogenic | Fanconi anemia complementation group O | 2021-08-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu219*) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV001779203 | SCV004932510 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2024-01-03 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |