ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.883+1G>C (rs1602961831)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,University of Goettingen RCV000991290 SCV001055692 likely pathogenic Charcot-Marie-Tooth disease axonal type 2C 2019-12-12 criteria provided, single submitter clinical testing This substitution is located in the donor splice site of intron 1. Predicted change at donor site 1 bps upstream: -100.0%. Pathogenic computational verdict because 4 pathogenic predictions from DANN, EIGEN, FATHMM-MKL and MutationTaster vs no benign predictions.

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.