ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) (rs375626634)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148825 SCV000190564 uncertain significance Congenital myopathy 2014-06-01 no assertion criteria provided research
Genetic Services Laboratory, University of Chicago RCV000147452 SCV000194883 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000721757 SCV000852889 uncertain significance not provided 2017-02-15 criteria provided, single submitter clinical testing

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