Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000769661 | SCV000320331 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-11-02 | 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. |
Invitae | RCV000541486 | SCV000641054 | benign | Aortic aneurysm, familial thoracic 4 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000601705 | SCV000729162 | likely benign | not specified | 2018-01-30 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769661 | SCV000901069 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-02-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769661 | SCV001357611 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001812761 | SCV001477689 | benign | not provided | 2020-01-18 | criteria provided, single submitter | clinical testing |