ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.178G>A (p.Asp60Asn) (rs118192160)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000056179 SCV000087268 pathologic Myopathy, Central Core 2010-05-11 no assertion criteria provided curation Converted during submission to Pathogenic.
Leiden Muscular Dystrophy (RYR1) RCV000119585 SCV000154492 not provided not provided no assertion provided not provided
PreventionGenetics RCV000119585 SCV000852491 likely pathogenic not provided 2017-10-11 criteria provided, single submitter clinical testing

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