Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774522 | SCV000908225 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000774522 | SCV001726969 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774522 | SCV002620342 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-03-17 | 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. |