ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp)

gnomAD frequency: 0.00001  dbSNP: rs1376794459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258128 SCV001435016 uncertain significance Malignant hyperthermia, susceptibility to, 1 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499448 SCV002776168 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2022-01-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130236 SCV003815016 uncertain significance not provided 2022-11-24 criteria provided, single submitter clinical testing

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