Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001182518 | SCV001347984 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002068318 | SCV002479096 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001182518 | SCV002694274 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-10-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |