Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000435319 | SCV000525662 | benign | not specified | 2016-09-22 | 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 | RCV002313081 | SCV000738284 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2014-12-30 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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 | RCV001510322 | SCV001717332 | benign | Adams-Oliver syndrome 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001510322 | SCV002554969 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000602700 | SCV002554970 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000435319 | SCV003928453 | benign | not specified | 2023-04-04 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000602700 | SCV000734680 | likely benign | Aortic valve disease 1 | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000435319 | SCV001809038 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000435319 | SCV001923985 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000435319 | SCV001957737 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000435319 | SCV001968726 | benign | not specified | no assertion criteria provided | clinical testing |