Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644033 | SCV000765721 | likely benign | Arterial tortuosity syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192940 | SCV001361411 | likely benign | not specified | 2019-10-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162907 | SCV003854380 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-03-07 | 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. |