Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000873910 | SCV001016003 | likely benign | Congenital contractural arachnodactyly | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003380767 | SCV004091698 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-08-30 | 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. |