Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001179748 | SCV001344478 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-03-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001456908 | SCV001660701 | likely benign | Aortic aneurysm, familial thoracic 4 | 2021-06-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001179748 | SCV002645344 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-02-20 | 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. |