ClinVar Miner

Variants in gene GJB1

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Gene type:
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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
184 119 545 120 26 15 788

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth Neuropathy X 129 34 173 101 15 0 452
Charcot-Marie-Tooth disease 17 6 353 10 4 0 377
Charcot-Marie-Tooth disease X-linked dominant 1 62 37 111 4 7 15 210
not provided 54 43 48 12 6 0 156
Inborn genetic diseases 9 8 21 5 0 0 43
not specified 0 0 19 5 10 0 31
GJB1-related condition 1 1 0 4 1 0 7
Peripheral neuropathy 2 3 0 0 0 0 5
Dejerine-Sottas disease 1 0 2 0 0 0 3
Cerebellar ataxia 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 0 0 0 1 0 0 1
D-2-hydroxyglutaric aciduria 1 0 0 1 0 0 0 1
Decreased nerve conduction velocity; Sensory neuropathy; Pes cavus; Hammertoe; Distal muscle weakness 0 1 0 0 0 0 1
GJB1-related disorders 0 0 1 0 0 0 1
Hand muscle atrophy 0 1 0 0 0 0 1
Pes cavus; Peroneal muscle atrophy; Distal lower limb muscle weakness; Hand muscle atrophy 0 1 0 0 0 0 1
Reduced tendon reflexes; Hammertoe; Achilles tendon contracture; Distal sensory impairment; Talipes cavus equinovarus; Progressive distal muscular atrophy; Progressive distal muscle weakness; Pain 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 129 34 173 101 15 0 452
Inherited Neuropathy Consortium 7 1 341 1 3 0 352
GeneDx 33 30 11 12 9 0 95
Inherited Neuropathy Consortium Ii, University Of Miami 7 0 88 0 0 0 95
Athena Diagnostics Inc 32 12 33 2 4 0 83
Ambry Genetics 9 8 21 5 0 0 43
CeGaT Center for Human Genetics Tuebingen 16 3 10 4 0 0 33
Natera, Inc. 5 0 18 6 3 0 32
OMIM 22 0 0 0 0 0 22
Molecular Genetics Laboratory, London Health Sciences Centre 4 4 4 8 1 0 21
Illumina Laboratory Services, Illumina 2 0 9 2 6 0 19
Mendelics 10 3 3 1 0 0 17
GeneReviews 0 0 0 0 0 14 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 2 2 0 1 0 10
MGZ Medical Genetics Center 5 4 0 0 0 0 9
PreventionGenetics, part of Exact Sciences 1 1 0 4 2 0 8
Mayo Clinic Laboratories, Mayo Clinic 5 0 2 0 0 0 7
Fulgent Genetics, Fulgent Genetics 3 0 2 2 0 0 7
Revvity Omics, Revvity 1 2 3 0 0 0 6
Clinical Genetics, Academic Medical Center 1 1 2 1 1 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 3 3 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 3 0 0 0 4
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 0 0 0 0 4
Institute of Human Genetics, University of Wuerzburg 0 4 0 0 0 0 4
3billion 1 1 2 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 1 0 3
Eurofins Ntd Llc (ga) 1 1 0 0 1 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 3 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 2 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 1 0 0 3
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 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
CMT Laboratory, Bogazici University 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 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
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
Department of Human Genetics, University Hospital Magdeburg 0 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 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

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