Variants studied for Charcot-Marie-Tooth disease type 2E

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
41	5	290	144	15	4	496

Gene and significance breakdown #

Total genes and gene combinations: 5

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
NEFL	37	4	267	129	13	3	450
LOC126860330, NEFL	3	1	22	13	1	0	40
MIR6841, NEFL	0	0	1	2	1	0	4
CDCA2, DOCK5, EBF2, GNRH1, KCTD9, NEFL	1	0	0	0	0	0	1
PMP22	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 15

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	35	5	284	144	15	0	483
OMIM	6	0	0	0	0	0	6
GeneReviews	0	0	0	0	0	3	3
Institute of Human Genetics, University of Leipzig Medical Center	0	0	3	0	0	0	3
Mendelics	2	0	0	0	0	0	2
Institute of Human Genetics, University Hospital of Duesseldorf	0	0	2	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	0	0	1	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	1	0	0	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	1	0	0	0	1
Neurology Department, Peking University First Hospital	1	0	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	0	1
3billion	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	0	0	1

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.