Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000762378 | SCV000892690 | likely benign | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085937 | SCV001007807 | likely benign | Aortic aneurysm, familial thoracic 7 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000762378 | SCV001753254 | likely benign | not provided | 2020-06-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343614 | SCV002651103 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-09 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987696 | SCV004803426 | benign | not specified | 2024-01-15 | criteria provided, single submitter | clinical testing |