ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8598C>T (p.Thr2866=) (rs538250432)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193410 SCV000248777 uncertain significance not specified 2015-04-10 criteria provided, single submitter clinical testing
Invitae RCV000538750 SCV000660069 benign RYR1-Related Disorders 2016-10-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000721710 SCV000852839 likely benign not provided 2018-09-13 criteria provided, single submitter clinical testing

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