Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313456 | SCV000739342 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-08-24 | 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 | RCV000876187 | SCV001018723 | likely benign | Aortic aneurysm, familial thoracic 7 | 2022-06-13 | criteria provided, single submitter | clinical testing |