Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539367 | SCV000658864 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000539367 | SCV002052112 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-04-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000539367 | SCV002695367 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-02-03 | 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. |