ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14647-1449A>G (rs193922886)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leiden Muscular Dystrophy (RYR1) RCV000119539 SCV000154446 not provided not provided no assertion provided not provided
OMIM RCV000013859 SCV000034106 pathogenic Minicore myopathy 2003-05-15 no assertion criteria provided literature only

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