ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.1438G>A (p.Glu480Lys) (rs878854375)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genetic Medicine Research,Children's National Medical Center RCV000231682 SCV000265786 likely pathogenic Central core myopathy 2015-12-01 criteria provided, single submitter research
PreventionGenetics,PreventionGenetics RCV000721364 SCV000852406 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing

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