Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MGZ Medical Genetics Center | RCV002290334 | SCV002580379 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2021-11-23 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV002290334 | SCV004932686 | 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. |