ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1484G>T (p.Arg495Leu)

dbSNP: rs200411226
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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 RCV001171138 SCV001333822 likely pathogenic Cardiomyopathy 2018-09-13 criteria provided, single submitter clinical testing
GeneDx RCV003442220 SCV004168256 uncertain significance not provided 2023-05-02 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 has a deleterious effect on protein structure/function

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