ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro) (rs587777881)

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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 RCV001173041 SCV001336116 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143807 SCV000188700 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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