Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001189205 | SCV001356450 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-01-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001408641 | SCV001610645 | likely benign | Ehlers-Danlos syndrome, type 4 | 2021-10-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001189205 | SCV003999868 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-04-30 | 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, |
RCV001408641 | SCV004825598 | likely benign | Ehlers-Danlos syndrome, type 4 | 2024-09-12 | criteria provided, single submitter | clinical testing |