Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197086 | SCV000250859 | benign | not specified | 2015-07-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV001186908 | SCV001353520 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001186908 | SCV001726502 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000197086 | SCV004028891 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |