ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.639C>G (p.Ile213Met) (rs62636522)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466392 SCV000563616 likely benign Charcot-Marie-Tooth disease type 2E 2017-11-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000057142 SCV000604449 benign not provided 2017-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000507003 SCV000714728 likely benign not specified 2017-06-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000057142 SCV000892829 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057142 SCV000088255 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000507003 SCV000928962 uncertain significance not specified 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.