ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs193922886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000013859 SCV000034106 pathogenic Congenital multicore myopathy with external ophthalmoplegia 2003-05-15 no assertion criteria provided literature only
Leiden Muscular Dystrophy (RYR1) RCV000119539 SCV000154446 not provided not provided no assertion provided not provided

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