ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14365-2A>T

dbSNP: rs193922870
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000013862 SCV000034109 pathogenic Congenital multicore myopathy with external ophthalmoplegia 2005-12-27 no assertion criteria provided literature only
RYR1 database RCV000119507 SCV000154414 not provided not provided no assertion provided not provided

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