Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000432321 | SCV000528627 | likely benign | not specified | 2016-06-08 | 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, |
RCV001177686 | SCV001341941 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001177686 | SCV002360850 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-12 | criteria provided, single submitter | clinical testing |