Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000342744 | SCV000365840 | likely benign | Multisystemic smooth muscle dysfunction syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000392308 | SCV000365841 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000284041 | SCV000365842 | likely benign | Moyamoya disease | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000557889 | SCV000646313 | benign | Aortic aneurysm, familial thoracic 6 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000392308 | SCV000738462 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-01-12 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000392308 | SCV000902096 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-04-21 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000392308 | SCV000913735 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001683216 | SCV001156883 | benign | not provided | 2023-09-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683216 | SCV001900050 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001000272 | SCV004029330 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |