ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1])

dbSNP: rs193922893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000119562 SCV000852457 likely pathogenic not provided 2017-09-15 criteria provided, single submitter clinical testing
GeneReviews RCV000056248 SCV000087337 pathologic Central core myopathy 2010-05-11 no assertion criteria provided curation Converted during submission to Pathogenic.
Leiden Muscular Dystrophy (RYR1) RCV000119562 SCV000154469 not provided not provided no assertion provided not provided

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