ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1297A>G (p.Thr433Ala)

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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 RCV005022988 SCV005647453 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 2024-05-21 criteria provided, single submitter clinical testing

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