ClinVar Miner

Submissions for variant NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) (rs1438501767)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662001 SCV000784333 uncertain significance Myopathy, Central Core 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662002 SCV000784334 uncertain significance Minicore myopathy 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662003 SCV000784335 uncertain significance Malignant hyperthermia, susceptibility to, 1 2018-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721581 SCV000852673 uncertain significance not provided 2013-10-22 criteria provided, single submitter clinical testing

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