ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.502+18G>A

gnomAD frequency: 0.00002  dbSNP: rs912964540
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606135 SCV000713912 likely benign not specified 2017-06-22 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 RCV002062156 SCV002389978 likely benign Hypertrophic cardiomyopathy 2023-12-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000606135 SCV001922734 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724074 SCV001951707 likely benign not provided no assertion criteria provided clinical testing

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