Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608312 | SCV000722072 | likely benign | not specified | 2017-08-15 | 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. |
Labcorp Genetics |
RCV002064014 | SCV002476843 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2022-03-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003528208 | SCV004357381 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-01-04 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002532 | SCV004829845 | likely benign | Marfan syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing |