Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV004440171 | SCV004931460 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 4 | 2024-01-04 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV004440171 | SCV005043960 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 4 | 2024-03-26 | criteria provided, single submitter | clinical testing | PVS1, PM2 |