ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7836-19C>T

gnomAD frequency: 0.00090  dbSNP: rs201378267
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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 RCV000251653 SCV000305020 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000251653 SCV000528865 likely benign not specified 2018-01-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002057386 SCV002393963 likely benign RYR1-related disorder 2025-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479961 SCV002797866 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

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