ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7842C>T (p.Ile2614=) (rs777420696)

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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 RCV000355376 SCV000412491 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265194 SCV000412492 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320354 SCV000412493 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379531 SCV000412494 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing

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