ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.5112C>T (p.Gly1704=) (rs35352076)

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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 RCV000079148 SCV000111017 benign not specified 2013-03-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079148 SCV000194838 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079148 SCV000304957 benign not specified 2018-04-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279784 SCV000412229 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337069 SCV000412230 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397246 SCV000412231 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310964 SCV000412232 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079148 SCV000525516 benign not specified 2016-03-29 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 RCV000537326 SCV000659957 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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