Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720133 | SCV000522105 | likely benign | not provided | 2020-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328945 | SCV002630445 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-08-23 | 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. |
Invitae | RCV003525900 | SCV004281165 | likely benign | Congenital contractural arachnodactyly | 2023-02-20 | criteria provided, single submitter | clinical testing |