ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.11360-9T>A (rs150187840)

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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 RCV000180403 SCV000232830 likely benign not specified 2014-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000180403 SCV000724013 likely benign not specified 2017-10-27 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 RCV000274624 SCV000412801 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327243 SCV000412802 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365631 SCV000412803 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268846 SCV000412804 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000533611 SCV000659765 benign RYR1-Related Disorders 2017-12-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000180403 SCV000304779 benign not specified 2018-01-16 criteria provided, single submitter clinical testing

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