ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4011G>A (p.Ser1337=)

gnomAD frequency: 0.07834  dbSNP: rs451794
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037494 SCV000061152 benign not specified 2011-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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, Montreal Heart Institute 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
GeneDx RCV001610327 SCV001840672 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037494 SCV001918474 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037494 SCV001932096 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037494 SCV001954701 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037494 SCV001969022 benign not specified no assertion criteria provided clinical testing

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