Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000637958 | SCV000759438 | likely benign | Hereditary breast ovarian cancer syndrome | 2021-05-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424406 | SCV002740990 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Brotman Baty Institute, |
RCV001073070 | SCV001238562 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |