Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000422369 | SCV000535038 | likely benign | not specified | 2016-12-19 | 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000422369 | SCV000695541 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001421062 | SCV001623576 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2021-05-16 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002328995 | SCV002629164 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-05-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Color Diagnostics, |
RCV002328995 | SCV004357382 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-24 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV004000564 | SCV004838865 | likely benign | Marfan syndrome | 2023-10-02 | criteria provided, single submitter | clinical testing |