ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.418G>T (p.Glu140Ter) (rs121913663)

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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 RCV000057137 SCV000088250 not provided not provided no assertion provided not provided
OMIM RCV000015079 SCV000035335 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1f 2009-02-01 no assertion criteria provided literature only

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