ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7835+7C>T (rs114522234)

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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 RCV000079171 SCV000111040 benign not specified 2013-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000079171 SCV000523030 benign not specified 2016-07-27 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.
Genetic Services Laboratory, University of Chicago RCV000079171 SCV000194863 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312951 SCV000412487 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356084 SCV000412488 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259434 SCV000412489 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319245 SCV000412490 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556685 SCV000660042 benign RYR1-Related Disorders 2018-01-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079171 SCV000305017 benign not specified 2018-03-26 criteria provided, single submitter clinical testing

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