ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.906C>T (p.Asp302=) (rs145943283)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000147449 SCV000305068 benign not specified 2018-03-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263777 SCV000411862 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302613 SCV000411863 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359313 SCV000411864 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266907 SCV000411865 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000147449 SCV000527485 benign not specified 2016-08-05 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 RCV000534510 SCV000660080 benign not provided 2019-03-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147449 SCV000194878 likely benign not specified no assertion criteria provided clinical testing

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