Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527705 | SCV000650570 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001264560 | SCV001442769 | likely benign | not specified | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003159892 | SCV003855218 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-01-08 | 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. |