ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)

gnomAD frequency: 0.00001  dbSNP: rs138617219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217935 SCV001389798 likely benign RYR1-Related Disorders 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504268 SCV002814361 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 2021-07-27 criteria provided, single submitter clinical testing

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