Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV004027345 | SCV004932551 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2024-01-03 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function. |
German Consortium for Hereditary Breast and Ovarian Cancer, |
RCV000785444 | SCV000924016 | likely pathogenic | Ovarian neoplasm | 2018-12-01 | no assertion criteria provided | research |