ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7487C>T (p.Pro2496Leu) (rs193922817)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000210012 SCV000265722 uncertain significance Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
Leiden Muscular Dystrophy (RYR1) RCV000119715 SCV000154622 not provided not provided no assertion provided not provided
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000210012 SCV000267484 uncertain significance Malignant hyperthermia, susceptibility to, 1 2016-03-18 criteria provided, single submitter reference population

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