Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV004442560 | SCV004930854 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-12-27 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in the incorporation of abnormal amino acid sequence into the protein product and abnormal protein elongation. |