ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3858T>C (p.Leu1286=) (rs16972636)

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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 RCV000079141 SCV000111010 benign not specified 2013-05-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079141 SCV000194826 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079141 SCV000304916 benign not specified 2018-04-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264162 SCV000412071 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303049 SCV000412072 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355519 SCV000412073 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263133 SCV000412074 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079141 SCV000519596 benign not specified 2016-05-04 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.
Invitae RCV000525602 SCV000659922 benign RYR1-Related Disorders 2017-08-17 criteria provided, single submitter clinical testing

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