ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13551C>T (p.Pro4517=) (rs886054410)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000334873 SCV000412980 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400738 SCV000412981 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299957 SCV000412982 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357149 SCV000412983 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing

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