ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4360-7C>T

dbSNP: rs58949384
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Total submissions: 11
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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 RCV000037504 SCV000061162 benign not specified 2011-12-13 criteria provided, single submitter clinical testing
Invitae RCV000228249 SCV000287426 benign Hypertrophic cardiomyopathy 14 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000037504 SCV000308978 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000037504 SCV000513790 benign not specified 2016-10-06 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770434 SCV000901877 benign Cardiomyopathy 2016-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001529027 SCV002049712 benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490509 SCV002802003 likely benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-10-26 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529027 SCV001741782 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037504 SCV001921111 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037504 SCV001959834 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037504 SCV001972945 benign not specified no assertion criteria provided clinical testing

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