ClinVar Miner

Variants in gene GJB1

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
192 139 569 122 26 15 823

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth Neuropathy X 136 36 195 103 15 0 485
Charcot-Marie-Tooth disease 17 6 353 10 4 0 377
Charcot-Marie-Tooth disease X-linked dominant 1 68 54 116 4 7 15 232
not provided 59 50 58 14 7 0 177
Inborn genetic diseases 11 8 26 5 0 0 50
not specified 0 0 29 8 11 0 44
GJB1-related disorder 1 1 3 6 1 0 12
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
Decreased nerve conduction velocity; Sensory neuropathy; Pes cavus; Hammertoe; Distal muscle weakness 0 1 0 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: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 136 36 195 103 15 0 485
Inherited Neuropathy Consortium 7 1 341 1 3 0 352
GeneDx 37 34 17 11 9 0 108
Inherited Neuropathy Consortium Ii, University Of Miami 7 0 88 0 0 0 95
Athena Diagnostics 34 13 38 2 5 0 92
Ambry Genetics 11 8 26 5 0 0 50
CeGaT Center for Human Genetics Tuebingen 18 4 10 4 0 0 36
Natera, Inc. 5 0 18 6 3 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 13 3 1 0 25
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 6 3 3 0 1 0 13
PreventionGenetics, part of Exact Sciences 1 1 2 6 2 0 12
Fulgent Genetics, Fulgent Genetics 5 2 2 2 0 0 11
MGZ Medical Genetics Center 5 4 0 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 5 0 3 0 0 0 8
Kariminejad - Najmabadi Pathology & Genetics Center 4 2 1 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 6
3billion 1 3 2 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 0 3 0 0 0 6
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 3 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 0 0 0 0 5
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
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 0 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 1 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 2 0 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 0 0 0 0 2
CMT Laboratory, Bogazici University 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 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
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
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 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
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 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
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 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
Department of Human Genetics, University Hospital Bern, Inselspital 0 1 0 0 0 0 1

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