Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003472542 | SCV004200434 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 4 | 2022-11-02 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003472542 | SCV004933847 | 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 termination codon and is predicted to result in premature protein truncation. |