Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001189097 | SCV001356301 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001565161 | SCV001788451 | likely benign | not provided | 2020-03-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002069060 | SCV002418168 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001189097 | SCV002616949 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-11-16 | 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. |
All of Us Research Program, |
RCV002069060 | SCV004829627 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-11-30 | criteria provided, single submitter | clinical testing |