ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13807G>C (p.Gly4603Arg) (rs373231458)

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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 RCV000376068 SCV000412992 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266269 SCV000412993 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323609 SCV000412994 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380546 SCV000412995 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing

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