ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5283+19C>T (rs45582836)

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Total submissions: 6
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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,PreventionGenetics RCV000168912 SCV000303248 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284833 SCV001470906 likely benign none provided 2020-05-27 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
Human Genetics - Radboudumc,Radboudumc RCV001528378 SCV001951396 likely benign not provided no assertion criteria provided clinical testing

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