Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000251250 | SCV000317671 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-04-11 | 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 | RCV000540331 | SCV000646320 | benign | Aortic aneurysm, familial thoracic 6 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000251250 | SCV001341542 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-12-05 | criteria provided, single submitter | clinical testing |