Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001183788 | SCV001349613 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-10-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001200439 | SCV001371403 | likely benign | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001183788 | SCV002613715 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-10 | 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, |
RCV004008413 | SCV004827480 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-05-30 | criteria provided, single submitter | clinical testing |