ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1383_1384dup (p.Asp462fs)

dbSNP: rs2095890455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256766 SCV001433205 likely pathogenic Hypertrophic cardiomyopathy 1 2019-11-06 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV005250169 SCV005900511 pathogenic Hypertrophic cardiomyopathy 4 2025-03-25 criteria provided, single submitter clinical testing

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