ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7099G>A (p.Ala2367Thr) (rs146306934)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148823 SCV000190562 uncertain significance Malignant hyperthermia, susceptibility to, 1 2014-06-01 no assertion criteria provided research
Leiden Muscular Dystrophy (RYR1) RCV000119688 SCV000154595 not provided not provided no assertion provided not provided
PreventionGenetics RCV000119688 SCV000852752 likely pathogenic not provided 2013-11-21 criteria provided, single submitter clinical testing

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