Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313309 | SCV000738986 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-10-07 | 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 | RCV001402784 | SCV001604639 | likely benign | Congenital contractural arachnodactyly | 2022-05-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003333999 | SCV004042236 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | FBN2: BP4, BP7 |