ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12846C>T (p.Leu4282=)

dbSNP: rs1184700540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002074247 SCV002384869 likely benign RYR1-related disorder 2023-03-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503306 SCV002807223 likely benign Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-09-14 criteria provided, single submitter clinical testing

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