ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9886del (p.Leu3296fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005028568 SCV005647477 likely pathogenic Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 2024-06-07 criteria provided, single submitter clinical testing

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