Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000217982 | SCV000277011 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-07 | 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. |
Invitae | RCV001506665 | SCV001711594 | likely benign | Familial cancer of breast | 2023-12-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000217982 | SCV004361388 | likely benign | Hereditary cancer-predisposing syndrome | 2023-02-27 | criteria provided, single submitter | clinical testing |