Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002229529 | SCV001711083 | likely benign | Familial adenomatous polyposis 1 | 2015-10-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336563 | SCV002643876 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-04 | 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. |