Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703466 | SCV000513775 | likely benign | not provided | 2019-10-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000459838 | SCV000556119 | likely benign | Aortic aneurysm, familial thoracic 4 | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001177603 | SCV001341841 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001177603 | SCV002622088 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-12-02 | 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. |