Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001181240 | SCV001346340 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-09-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001490883 | SCV001695457 | likely benign | Ehlers-Danlos syndrome, type 4 | 2022-09-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001181240 | SCV002688322 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-10-14 | 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. |