ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7281C>T (p.Ala2427=) (rs77310009)

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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 RCV000147439 SCV000203457 benign not specified 2014-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000147439 SCV000526411 benign not specified 2016-06-07 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 RCV000147439 SCV000194854 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347480 SCV000412419 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397591 SCV000412420 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307514 SCV000412421 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369149 SCV000412422 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000535346 SCV000660023 benign RYR1-Related Disorders 2017-08-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000147439 SCV000305002 benign not specified 2016-12-19 criteria provided, single submitter clinical testing

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