ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3042G>A (p.Ala1014=) (rs2228074)

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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 RCV000176460 SCV000228119 benign not specified 2014-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000176460 SCV000532258 likely benign not specified 2018-01-03 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 RCV000263802 SCV000412011 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318863 SCV000412012 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373555 SCV000412013 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260208 SCV000412014 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000545254 SCV000659909 benign RYR1-Related Disorders 2017-12-05 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119606 SCV000154513 not provided not provided no assertion provided not provided
PreventionGenetics RCV000176460 SCV000304904 benign not specified 2018-03-13 criteria provided, single submitter clinical testing

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