ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7737G>A (p.Val2579=) (rs114975624)

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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 RCV000079168 SCV000111037 benign not specified 2013-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000079168 SCV000523029 benign not specified 2016-10-31 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 RCV000147443 SCV000194861 uncertain significance not provided 2013-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307589 SCV000412467 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369238 SCV000412468 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276971 SCV000412469 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329613 SCV000412470 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000532035 SCV000660037 benign RYR1-Related Disorders 2018-01-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079168 SCV000305014 benign not specified 2018-03-13 criteria provided, single submitter clinical testing

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