Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001187926 | SCV001354861 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001187926 | SCV002667518 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-01 | 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. |
Ce |
RCV003326549 | SCV004032620 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | APC: PM2:Supporting, BP4, BP7 |