Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001425098 | SCV001627709 | likely benign | Arterial tortuosity syndrome | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002285483 | SCV002575180 | likely benign | not provided | 2020-12-03 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV003160703 | SCV003854337 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-02-03 | 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. |