Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000037517 | SCV000051569 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000037517 | SCV000061175 | benign | not specified | 2011-12-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000037517 | SCV000308983 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000245501 | SCV000318211 | benign | Cardiovascular phenotype | 2015-07-08 | 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. |
Gene |
RCV000037517 | SCV000515346 | benign | not specified | 2016-10-24 | 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. |
Invitae | RCV000467560 | SCV000557869 | benign | Hypertrophic cardiomyopathy 14 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000037517 | SCV000740605 | benign | not specified | 2016-06-15 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000037517 | SCV001917770 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000037517 | SCV001931696 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000037517 | SCV001958723 | benign | not specified | no assertion criteria provided | clinical testing |