ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln)

dbSNP: rs1565631094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000768508 SCV000886813 uncertain significance Hypertrophic cardiomyopathy 2018-10-31 criteria provided, single submitter clinical testing
Clinical Genetics, Erasmus University Medical Center RCV000984691 SCV000994808 uncertain significance Aganglionic megacolon 2019-05-16 no assertion criteria provided clinical testing

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