ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) (rs587777882)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143808 SCV000188701 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Inherited Neuropathy Consortium RCV000789071 SCV000928420 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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