Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000584329 | SCV000689691 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000616292 | SCV000715882 | likely benign | not provided | 2021-04-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000584329 | SCV001184690 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-08 | 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 | RCV001399884 | SCV001601684 | likely benign | Familial cancer of breast | 2023-12-02 | criteria provided, single submitter | clinical testing |