ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10803C>T (p.Ala3601=)

gnomAD frequency: 0.00006  dbSNP: rs141542477
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865996 SCV001007030 likely benign RYR1-related disorder 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501255 SCV002801280 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 2021-08-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002969 SCV004823945 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing

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