ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10259+7G>A (rs143752962)

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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 RCV000147398 SCV000203466 benign not specified 2013-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000147398 SCV000522744 benign not specified 2016-05-05 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.
Genetic Services Laboratory, University of Chicago RCV000147398 SCV000194778 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389354 SCV000412720 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276235 SCV000412721 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331217 SCV000412722 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385766 SCV000412723 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000529915 SCV000659745 benign RYR1-Related Disorders 2018-01-23 criteria provided, single submitter clinical testing
PreventionGenetics RCV000147398 SCV000304753 benign not specified 2016-07-27 criteria provided, single submitter clinical testing

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