Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000487861 | SCV000575438 | uncertain significance | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002526000 | SCV003257491 | likely benign | Congenital contractural arachnodactyly | 2023-09-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302721 | SCV003997584 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-03-24 | 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. |