ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.12624+14C>T (rs75797287)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147410 SCV000194796 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147410 SCV000304810 benign not specified 2017-11-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324339 SCV000412885 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360496 SCV000412886 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261082 SCV000412887 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316655 SCV000412888 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000147410 SCV000519965 benign not specified 2016-05-18 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.

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