ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14761_14762delinsAC (p.Phe4921Thr) (rs118192171)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leiden Muscular Dystrophy (RYR1) RCV000119559 SCV000154466 not provided not provided no assertion provided not provided
OMIM RCV000013868 SCV000034115 pathogenic Neuromuscular disease, congenital, with uniform type 1 fiber 2008-01-08 no assertion criteria provided literature only
OMIM RCV000013869 SCV000034116 pathogenic Myopathy, Central Core 2008-01-08 no assertion criteria provided literature only

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