Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234521 | SCV000290951 | likely benign | Arterial tortuosity syndrome | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001578214 | SCV001805760 | likely benign | not provided | 2019-03-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365216 | SCV002663928 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-08 | 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. |