ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4292C>T (p.Thr1431Met) (rs191656849)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000383916 SCV000412145 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284701 SCV000412146 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339681 SCV000412147 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393166 SCV000412148 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721532 SCV000852615 uncertain significance not provided 2017-12-27 criteria provided, single submitter clinical testing

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