Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022572 | SCV001184326 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-18 | 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. |
Color Diagnostics, |
RCV001022572 | SCV001357423 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003649216 | SCV001614637 | likely benign | Familial adenomatous polyposis 1 | 2023-12-22 | criteria provided, single submitter | clinical testing |