ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9355C>T (p.Arg3119Cys) (rs61739911)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000721737 SCV000231884 uncertain significance not provided 2015-06-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280267 SCV000412644 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337639 SCV000412645 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407782 SCV000412646 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283860 SCV000412647 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721737 SCV000852867 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV000721737 SCV001007571 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing

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