Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421440 | SCV000531723 | likely benign | not specified | 2016-09-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV001191921 | SCV001359856 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001450306 | SCV001653909 | likely benign | Aortic aneurysm, familial thoracic 4 | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001191921 | SCV002628611 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-12-28 | 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. |