ClinVar Miner

Variants studied for Leukoencephalopathy with vanishing white matter

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
34 4 95 18 15 2 164

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EIF2B5 12 2 22 2 3 0 41
EIF2B1 8 0 15 7 5 0 34
EIF2B3 5 1 17 3 3 0 29
EIF2B4 4 0 21 2 2 0 28
EIF2B2 5 1 17 0 0 2 23
EIF2B2, MLH3 0 0 0 4 2 0 6
EIF2B1, GTF2H3 0 0 3 0 0 0 3

Submitter and significance breakdown #

Total submitters: 10
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 4 1 86 18 15 0 124
OMIM 31 0 0 0 0 0 31
Fulgent Genetics,Fulgent Genetics 2 1 1 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 2 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 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.