ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9261C>T (p.Ile3087=) (rs56338790)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000265326 SCV000412632 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304062 SCV000412633 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361218 SCV000412634 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268916 SCV000412635 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000535570 SCV000660083 likely benign RYR1-Related Disorders 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721733 SCV000852862 likely benign not provided 2018-02-13 criteria provided, single submitter clinical testing

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