ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)

dbSNP: rs118192165
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000013851 SCV000034098 pathogenic Central core myopathy 2001-10-15 no assertion criteria provided literature only
Leiden Muscular Dystrophy (RYR1) RCV000119463 SCV000154370 not provided not provided no assertion provided not provided

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