ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5283+19C>T

gnomAD frequency: 0.00020  dbSNP: rs45582836
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000168912 SCV000170538 benign not specified 2014-02-10 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.
PreventionGenetics, part of Exact Sciences RCV000168912 SCV000303248 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001528378 SCV001470906 likely benign not provided 2020-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055689 SCV002411497 likely benign Hypertrophic cardiomyopathy 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492479 SCV002794848 likely benign Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-08-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528378 SCV001740037 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000168912 SCV001926073 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528378 SCV001951396 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000168912 SCV001973968 benign not specified no assertion criteria provided clinical testing

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