ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057129 SCV000088242 not provided not provided no assertion provided not provided
GeneReviews RCV000015074 SCV000086938 pathologic Charcot-Marie-Tooth disease type 2E 2012-07-05 no assertion criteria provided curation Converted during submission to Pathogenic.
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.