ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type X

Included ClinVar conditions (9):
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
75 43 209 68 33 18 414

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GJB1 62 38 111 4 7 15 211
PDK3 2 0 82 54 24 0 161
AIFM1, RAB33A 4 2 10 3 1 1 19
PRPS1 6 2 2 6 1 2 16
LOC130068067, PDK3 0 0 2 0 0 0 2
AIFM1, LOC130068679, RAB33A 0 0 0 1 0 0 1
DNAJB2 1 0 0 0 0 0 1
DRP2 0 0 1 0 0 0 1
SACS 0 1 0 0 0 0 1
SBF1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 0 80 54 22 0 157
Inherited Neuropathy Consortium Ii, University Of Miami 8 0 92 0 0 0 100
OMIM 33 0 0 0 0 0 33
Fulgent Genetics, Fulgent Genetics 3 0 6 12 2 0 23
Illumina Laboratory Services, Illumina 2 0 8 2 6 0 18
GeneReviews 0 0 0 0 0 16 16
Mendelics 10 3 0 1 0 0 14
MGZ Medical Genetics Center 5 4 1 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 2 1 0 2 0 9
Revvity Omics, Revvity 1 2 4 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 3 4 0 0 0 7
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 2 3 0 0 0 0 5
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 0 0 0 0 4
3billion 1 1 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Molecular Genetics, Royal Melbourne Hospital 1 2 0 0 0 0 3
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 2 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Athena Diagnostics Inc 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Molecular Genetics and RNA Biology, University of Milan 2 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Codex Genetics Limited 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 1 0 0 0 2
CMT Laboratory, Bogazici University 2 0 0 0 0 0 2
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Inherited Neuropathy Consortium 0 0 1 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 0 1 0 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 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 1 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1

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