Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000461268 | SCV000560668 | likely benign | Aortic aneurysm, familial thoracic 7 | 2024-09-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001569302 | SCV001793349 | likely benign | not provided | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436501 | SCV002746783 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-12-10 | 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. |
Breakthrough Genomics, |
RCV001569302 | SCV005264735 | likely benign | not provided | criteria provided, single submitter | not provided |