ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) (rs193922781)

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Total submissions: 4
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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 RCV000148807 SCV000265707 pathogenic Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
CSER_CC_NCGL; University of Washington Medical Center RCV000148807 SCV000190546 pathogenic Malignant hyperthermia, susceptibility to, 1 2014-06-01 no assertion criteria provided research
Leiden Muscular Dystrophy (RYR1) RCV000119633 SCV000154540 not provided not provided no assertion provided not provided
PreventionGenetics RCV000119633 SCV000852674 likely pathogenic not provided 2018-07-08 criteria provided, single submitter clinical testing

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