ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) (rs58640772)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015077 SCV000035333 pathogenic Charcot-Marie-Tooth disease type 2E 2006-05-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057141 SCV000088254 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000790245 SCV000929641 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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