ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4055C>G (p.Ala1352Gly) (rs112105381)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148802 SCV000190540 likely benign Malignant hyperthermia, susceptibility to, 1 2014-06-01 no assertion criteria provided research
GeneDx RCV000147424 SCV000730603 likely benign not specified 2017-10-30 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 RCV000147424 SCV000194829 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383914 SCV000412096 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000544370 SCV000659929 benign RYR1-Related Disorders 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000147424 SCV000304922 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000721517 SCV000852597 likely benign not provided 2017-02-15 criteria provided, single submitter clinical testing

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