Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226797 | SCV000291186 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-07-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001577854 | SCV001805327 | likely benign | not provided | 2019-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436042 | SCV002752103 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-06-14 | 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. |