Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226039 | SCV000290313 | benign | Adams-Oliver syndrome 5 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000611404 | SCV000731091 | benign | not specified | 2017-05-18 | 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. |
Ambry Genetics | RCV000769574 | SCV000738394 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-08-11 | 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, |
RCV000769574 | SCV000900971 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-11-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000226039 | SCV002553757 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270067 | SCV002553759 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000611404 | SCV004029530 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736665 | SCV004563043 | benign | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000611404 | SCV001807928 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000611404 | SCV001975582 | benign | not specified | no assertion criteria provided | clinical testing |