Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595450 | SCV000701754 | likely benign | not specified | 2016-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000866394 | SCV000731086 | likely benign | not provided | 2019-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001521663 | SCV001731043 | benign | Shprintzen-Goldberg syndrome | 2022-10-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395515 | SCV002700209 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-03-15 | 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. |