ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.46-4G>A

dbSNP: rs201094741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867181 SCV001008378 likely benign RYR1-related disorder 2023-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487901 SCV002800384 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 2021-07-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002997 SCV004824197 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000867181 SCV004725298 likely benign RYR1-related disorder 2022-07-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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