ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.737A>G (p.Tyr246Cys)

gnomAD frequency: 0.00001  dbSNP: rs923613797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754443 SCV001988445 uncertain significance not provided 2019-09-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Fulgent Genetics, Fulgent Genetics RCV002503196 SCV002779692 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-11-08 criteria provided, single submitter clinical testing

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