ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs)

dbSNP: rs730880644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KardioGenetik, Herz- und Diabeteszentrum NRW RCV003246691 SCV003936109 likely pathogenic Hypertrophic cardiomyopathy 4 2023-07-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV003246691 SCV005419407 pathogenic Hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing

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