Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001436686 | SCV001639530 | likely benign | Congenital contractural arachnodactyly | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384660 | SCV002692906 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-08-03 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003331155 | SCV004039182 | likely benign | not specified | 2023-08-23 | criteria provided, single submitter | clinical testing |