ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.19G>A (p.Glu7Lys) (rs57848467)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057126 SCV000088239 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000789662 SCV000929035 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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