Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001190890 | SCV001358521 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001418311 | SCV001620536 | likely benign | Aortic aneurysm, familial thoracic 4 | 2022-09-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001190890 | SCV002638201 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-08-30 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003117627 | SCV003800851 | likely benign | not specified | 2023-01-09 | criteria provided, single submitter | clinical testing |