Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037494 | SCV000061152 | benign | not specified | 2011-09-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000037494 | SCV000308974 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000244300 | SCV000317541 | benign | Cardiovascular phenotype | 2015-06-15 | 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. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000037494 | SCV000740601 | benign | not specified | 2016-05-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001513925 | SCV001721631 | benign | Hypertrophic cardiomyopathy 14 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001610327 | SCV001840672 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000037494 | SCV001918474 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000037494 | SCV001932096 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000037494 | SCV001954701 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000037494 | SCV001969022 | benign | not specified | no assertion criteria provided | clinical testing |