ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11444T>C (p.Met3815Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797121 SCV005417566 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate

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