ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) (rs114203198)

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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 RCV000079152 SCV000111021 benign not specified 2013-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000079152 SCV000535281 likely benign not specified 2017-11-09 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.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000079152 SCV000845595 likely benign not specified 2018-08-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384514 SCV000412285 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283019 SCV000412286 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321732 SCV000412287 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379165 SCV000412288 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553093 SCV000659970 benign RYR1-Related Disorders 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079152 SCV000304966 benign not specified 2018-04-02 criteria provided, single submitter clinical testing

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