ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10579C>T (p.Pro3527Ser) (rs118192164)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000013854 SCV000034101 pathogenic Central core disease, autosomal recessive 2002-06-01 no assertion criteria provided literature only
Leiden Muscular Dystrophy (RYR1) RCV000119413 SCV000154320 not provided not provided no assertion provided not provided

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