ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10941C>G (p.His3647Gln) (rs114351116)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079120 SCV000110989 benign not specified 2013-07-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079120 SCV000304768 benign not specified 2018-04-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357591 SCV000412777 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265131 SCV000412778 likely benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299239 SCV000412779 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356593 SCV000412780 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000538736 SCV000659757 benign RYR1-Related Disorders 2020-10-09 criteria provided, single submitter clinical testing
GeneDx RCV001719822 SCV000726244 benign not provided 2021-03-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30325262)

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