ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2585C>G (p.Ala862Gly)

dbSNP: rs149576470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170272 SCV001332835 uncertain significance Cardiomyopathy 2018-04-16 criteria provided, single submitter clinical testing
GeneDx RCV003236872 SCV003935454 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27532257, 29300372)

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