Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314280 | SCV000738720 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-07-20 | 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. |
Gene |
RCV001637105 | SCV001849761 | likely benign | not provided | 2019-08-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003767795 | SCV004616010 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-09-23 | criteria provided, single submitter | clinical testing |