ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11091C>T (p.Pro3697=)

gnomAD frequency: 0.00002  dbSNP: rs201296563
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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 RCV002129118 SCV002453458 likely benign RYR1-related disorder 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505794 SCV002805902 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 2021-08-23 criteria provided, single submitter clinical testing

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