ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.12084G>T (p.Ser4028=) (rs571477269)

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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 RCV000384274 SCV000412849 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287574 SCV000412850 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344848 SCV000412851 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378552 SCV000412852 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing

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