ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14659C>T (p.His4887Tyr) (rs118192147)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000056199 SCV000087288 pathologic Myopathy, Central Core 2010-05-11 no assertion criteria provided curation Converted during submission to Pathogenic.
Leiden Muscular Dystrophy (RYR1) RCV000119542 SCV000154449 not provided not provided no assertion provided not provided
PreventionGenetics RCV000119542 SCV000852445 likely pathogenic not provided 2015-08-19 criteria provided, single submitter clinical testing

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