Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638895 | SCV000760449 | likely benign | Shprintzen-Goldberg syndrome | 2022-07-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448988 | SCV002733832 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-10-20 | 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. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724113 | SCV001957746 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001724113 | SCV001974906 | likely benign | not provided | no assertion criteria provided | clinical testing |