ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1087C>T (p.Pro363Ser)

gnomAD frequency: 0.00001  dbSNP: rs367995800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153860 SCV000203447 uncertain significance not provided 2014-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492579 SCV002788600 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 2021-10-18 criteria provided, single submitter clinical testing

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