Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001696757 | SCV000535200 | likely benign | not provided | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000558563 | SCV000637277 | benign | Shprintzen-Goldberg syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000441456 | SCV000702109 | likely benign | not specified | 2016-10-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411410 | SCV002675779 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-04-30 | 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. |