ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) (rs60261494)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015074 SCV000035330 pathogenic Charcot-Marie-Tooth disease type 2E 2007-12-15 no assertion criteria provided literature only
OMIM RCV000015075 SCV000035331 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1f 2007-12-15 no assertion criteria provided literature only
GeneReviews RCV000015074 SCV000086938 pathologic Charcot-Marie-Tooth disease type 2E 2012-07-05 no assertion criteria provided curation Converted during submission to Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057129 SCV000088242 not provided not provided no assertion provided not provided

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