Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000604562 | SCV000730546 | likely benign | not specified | 2017-05-30 | 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, |
RCV001186318 | SCV001352701 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-02-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001400597 | SCV001602402 | likely benign | Ehlers-Danlos syndrome, type 4 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001400597 | SCV004827580 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-10-02 | criteria provided, single submitter | clinical testing |