ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.12990C>T (p.Thr4330=) (rs184450380)

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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 RCV000079127 SCV000110996 benign not specified 2017-09-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079127 SCV000194801 likely benign not specified 2014-01-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079127 SCV000304815 benign not specified 2018-03-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297385 SCV000412919 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337816 SCV000412920 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392304 SCV000412921 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312161 SCV000412922 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079127 SCV000524441 benign not specified 2017-10-23 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 RCV000655650 SCV000777581 benign not provided 2019-02-28 criteria provided, single submitter clinical testing

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