Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000251729 | SCV000304004 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002229945 | SCV001669295 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165687 | SCV003855554 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-03-03 | 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. |