Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314177 | SCV000738364 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-09-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Invitae | RCV000633632 | SCV000754881 | benign | Congenital contractural arachnodactyly | 2023-09-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001555312 | SCV001776709 | likely benign | not provided | 2020-06-08 | criteria provided, single submitter | clinical testing |