Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440066 | SCV000528247 | likely benign | not specified | 2016-06-07 | 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, |
RCV001184551 | SCV001350560 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-10-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002059667 | SCV002399350 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-03-20 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000454 | SCV004823060 | likely benign | Marfan syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |