Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001451952 | SCV001655594 | likely benign | Congenital contractural arachnodactyly | 2022-07-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002396049 | SCV002674098 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-04-03 | 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, |
RCV003490254 | SCV004241201 | benign | not specified | 2023-12-17 | criteria provided, single submitter | clinical testing |