ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1923C>G (p.Thr641=)

gnomAD frequency: 0.00404  dbSNP: rs116591968
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241663 SCV000304869 benign not specified 2016-04-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393964 SCV000411902 likely benign Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312198 SCV000411903 likely benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370132 SCV000411904 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277838 SCV000411905 likely benign Multiminicore myopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000550595 SCV000659875 benign RYR1-related disorder 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001573040 SCV000715204 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500865 SCV002811234 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 2021-08-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514333 SCV004357284 benign Malignant hyperthermia, susceptibility to, 1 2022-05-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003514333 SCV004820758 benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573040 SCV001798333 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000241663 SCV001932338 benign not specified no assertion criteria provided clinical testing

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