Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000506440 | SCV000605161 | likely benign | not specified | 2017-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001491029 | SCV001695609 | likely benign | Arterial tortuosity syndrome | 2021-04-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001764507 | SCV001988720 | likely benign | not provided | 2021-10-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26582918) |
Ambry Genetics | RCV003302745 | SCV003999285 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-04-07 | 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. |