ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) (rs587777879)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174164 SCV001337285 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143796 SCV000188688 pathogenic Charcot-Marie-Tooth Neuropathy X Type 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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