ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) (rs61491953)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000234847 SCV000055880 pathologic Charcot-Marie-Tooth disease type 2E 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057131 SCV000088244 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000789663 SCV000929036 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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