ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)

gnomAD frequency: 0.00057  dbSNP: rs113058779
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001078943 SCV000659839 likely benign RYR1-related disorder 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000827374 SCV000969017 likely benign not provided 2020-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497201 SCV002806477 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
Revvity Omics, Revvity RCV000827374 SCV003813172 uncertain significance not provided 2019-08-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999489 SCV004814967 benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing

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