Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000584564 | SCV000691394 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000635507 | SCV000756921 | likely benign | Juvenile polyposis syndrome | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384279 | SCV002689790 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2020-02-26 | 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. |