Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000771989 | SCV000317708 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-05-25 | 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. |
Gene |
RCV000421824 | SCV000527936 | likely benign | not specified | 2016-05-18 | 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. |
Eurofins Ntd Llc |
RCV000421824 | SCV000709201 | likely benign | not specified | 2017-06-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771989 | SCV000904944 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-08-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000863633 | SCV001004328 | benign | Aortic aneurysm, familial thoracic 4 | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000421824 | SCV002103570 | benign | not specified | 2022-02-05 | criteria provided, single submitter | clinical testing |