ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 3

Included ClinVar conditions (7):
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
13 7 55 3 7 3 82

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MPZ 4 5 17 0 0 1 25
PMP22 2 1 19 1 1 1 24
PRX 3 1 11 2 5 0 21
EGR2 3 0 5 0 1 1 8
GJB1 1 0 2 0 0 0 3
LOC130064454, PRX 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inherited Neuropathy Consortium 0 0 34 0 0 0 34
Fulgent Genetics, Fulgent Genetics 2 1 7 3 3 0 16
Baylor Genetics 0 0 7 0 0 0 7
Genome-Nilou Lab 0 0 0 0 4 0 4
3billion 1 3 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Institute of Human Genetics, University of Goettingen 2 0 0 0 0 0 2
Mendelics 2 0 0 0 0 0 2
GeneReviews 1 0 0 0 0 1 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 0 1 0 0 0 1

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