Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697366 | SCV000717237 | likely benign | not provided | 2020-02-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001189428 | SCV001356716 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002063049 | SCV002385799 | likely benign | Aortic aneurysm, familial thoracic 4 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001189428 | SCV003993405 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-01 | 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. |