ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) (rs150388417)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153868 SCV000203461 benign not specified 2014-01-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000153868 SCV000248776 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153868 SCV000305047 benign not specified 2018-02-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300489 SCV000412567 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355636 SCV000412568 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396808 SCV000412569 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301883 SCV000412570 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000153868 SCV000526627 likely benign not specified 2017-12-11 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.
Invitae RCV000549411 SCV000660064 benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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