ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13464G>A (p.Pro4488=) (rs10405232)

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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 RCV000147412 SCV000203474 benign not specified 2014-04-29 criteria provided, single submitter clinical testing
GeneDx RCV000147412 SCV000714562 benign not specified 2017-04-07 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 RCV000147412 SCV000194803 benign not specified 2013-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360140 SCV000412963 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406908 SCV000412964 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297295 SCV000412965 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354603 SCV000412966 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000538356 SCV000659817 benign RYR1-Related Disorders 2017-12-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000147412 SCV000304820 benign not specified 2018-01-16 criteria provided, single submitter clinical testing

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