Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001190882 | SCV001358513 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001190882 | SCV002387354 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001190882 | SCV002691775 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-12-15 | 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. |