ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.446C>T (p.Ala149Val) (rs59101996)

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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 RCV000057139 SCV000088252 not provided not provided no assertion provided not provided
GeneReviews RCV000034137 SCV000058068 pathologic Charcot-Marie-Tooth disease, demyelinating, type 1f 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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