ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1533C>T (p.Ala511=)

gnomAD frequency: 0.00002  dbSNP: rs758172706
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244707 SCV000304858 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001085305 SCV001010845 likely benign RYR1-related disorder 2023-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494713 SCV002802215 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 2021-08-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998963 SCV004821673 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing

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