ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)

dbSNP: rs118192146
Minimum review status: Collection method:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000056251 SCV000087340 pathologic Central core myopathy 2010-05-11 no assertion criteria provided curation Converted during submission to Pathogenic.
Leiden Muscular Dystrophy (RYR1) RCV000119535 SCV000154442 not provided not provided no assertion provided not provided
OMIM RCV000056251 SCV005046823 pathogenic Central core myopathy 2003-12-01 no assertion criteria provided literature only

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