ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12978del (p.Glu4327fs)

dbSNP: rs1568582893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721302 SCV000852330 pathogenic not provided 2016-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485817 SCV002787974 likely pathogenic Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-11-06 criteria provided, single submitter clinical testing

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