Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441823 | SCV000521606 | likely benign | not specified | 2015-11-18 | 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. |
Ce |
RCV000997614 | SCV001153220 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001187377 | SCV001354151 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003522969 | SCV004305166 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-05-19 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003522969 | SCV004832424 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-04-15 | criteria provided, single submitter | clinical testing |