ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.65C>G (p.Pro22Arg) (rs267607538)

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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 RCV000057145 SCV000088258 not provided not provided no assertion provided not provided
GeneReviews RCV000034139 SCV000058070 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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