Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000243555 | SCV000314738 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002518657 | SCV001004885 | likely benign | Arterial tortuosity syndrome | 2023-09-29 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001171027 | SCV001333696 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001171027 | SCV002659511 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-02-03 | 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. |