Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000926775 | SCV000724455 | likely benign | not provided | 2021-06-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001176358 | SCV001340322 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-11-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001455572 | SCV001659336 | likely benign | Aortic aneurysm, familial thoracic 4 | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001176358 | SCV003855354 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-02 | 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. |