Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000241785 | SCV000318883 | likely benign | Cardiovascular phenotype | 2013-08-01 | 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. |
Blueprint Genetics | RCV000788803 | SCV000928056 | likely pathogenic | not provided | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001410010 | SCV001612051 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2018-12-17 | criteria provided, single submitter | clinical testing | |
Centre of Medical Genetics, |
RCV002245987 | SCV002025336 | uncertain significance | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PP3, PP4 |