ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8949T>C (p.Ser2983=) (rs116537677)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079183 SCV000111052 benign not specified 2013-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000079183 SCV000726243 benign not specified 2018-01-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000348452 SCV000412608 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405734 SCV000412609 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313484 SCV000412610 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370460 SCV000412611 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000544088 SCV000660075 benign RYR1-Related Disorders 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079183 SCV000305065 benign not specified 2018-04-02 criteria provided, single submitter clinical testing

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