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
96 45 390 12 13 468

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease 8 1 337 0 0 345
Charcot-Marie-Tooth Neuropathy X 51 13 52 2 3 121
not provided 30 30 9 2 2 71
X-linked hereditary motor and sensory neuropathy 43 3 1 0 0 47
not specified 0 0 15 7 9 27
Charcot-Marie-Tooth, X-linked 0 0 2 4 3 9
Dejerine-Sottas disease 1 0 2 0 0 3
Inborn genetic diseases 1 0 1 0 0 2
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
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: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Inherited Neuropathy Consortium 7 0 340 0 3 350
Invitae 51 13 52 2 3 121
GeneDx 22 24 4 7 5 62
Athena Diagnostics Inc 22 4 15 2 1 44
OMIM 22 0 0 0 0 22
GeneReviews 14 0 0 0 0 14
Illumina Clinical Services Laboratory,Illumina 0 0 2 4 3 9
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 1 0 0 3
Ambry Genetics 1 0 1 1 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 0 0 1 3
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 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
PreventionGenetics 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 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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