ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.425-19A>G

gnomAD frequency: 0.00289  dbSNP: rs193169917
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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 RCV000252970 SCV000304929 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252970 SCV000523338 likely benign not specified 2017-08-29 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 RCV002057379 SCV002367226 benign RYR1-related disorder 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479960 SCV002801187 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 2022-04-14 criteria provided, single submitter clinical testing

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