ClinVar Miner

Variants in gene GJB1

Minimum submission review status: Collection method:
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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 total
128 71 450 45 19 580

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease 16 6 345 9 2 367
Charcot-Marie-Tooth Neuropathy X 77 24 102 23 8 234
not provided 41 34 26 12 3 112
Charcot-Marie-Tooth Neuropathy X Type 1 53 11 12 2 6 83
not specified 0 0 13 7 10 26
Dejerine-Sottas disease 1 0 2 0 0 3
Inborn genetic diseases 1 1 1 0 0 3
Cerebellar ataxia 0 0 1 0 0 1
D-2-hydroxyglutaric aciduria 1 0 0 1 0 0 1
Decreased nerve conduction velocity; Sensory neuropathy; Pes cavus; Hammertoe; Distal muscle weakness 0 1 0 0 0 1
History of neurodevelopmental disorder 0 0 0 1 0 1
Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers 0 0 0 1 0 1
Peripheral neuropathy 0 1 0 0 0 1
Pes cavus; Peroneal muscle atrophy; Distal lower limb muscle weakness; Hand muscle atrophy 0 1 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 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Inherited Neuropathy Consortium 7 1 341 1 3 352
Invitae 77 24 102 29 8 240
Athena Diagnostics Inc 26 8 24 2 3 63
GeneDx 23 24 4 7 5 63
OMIM 22 0 0 0 0 22
Molecular Genetics Laboratory,London Health Sciences Centre 4 4 4 8 1 21
Illumina Clinical Services Laboratory,Illumina 2 0 8 2 6 18
CeGaT Praxis fuer Humangenetik Tuebingen 10 1 6 1 0 18
Natera, Inc. 4 0 7 4 1 16
GeneReviews 14 0 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 2 1 0 0 6
Mendelics 3 1 0 1 0 5
Ambry Genetics 1 1 1 1 0 4
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 0 0 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 1 0 0 1 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 0 0 3
Baylor Genetics 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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 2
Codex Genetics Limited 1 1 0 0 0 2
CMT Laboratory,Bogazici University 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
PreventionGenetics, PreventionGenetics 0 0 0 0 1 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Department of Human Genetics, University Hospital Magdeburg 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 1 0 0 0 0 1

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