Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527408 | SCV000633175 | likely benign | Familial cancer of breast | 2023-09-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777677 | SCV000913599 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000777677 | SCV001182881 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-15 | 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. |