ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease X-linked dominant 1

Included ClinVar conditions (1):
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 total
53 11 12 2 6 83

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GJB1 53 11 12 2 6 83

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 22 0 0 0 0 22
Illumina Clinical Services Laboratory,Illumina 2 0 8 2 6 18
GeneReviews 14 0 0 0 0 14
Athena Diagnostics Inc 5 0 0 0 0 5
Mendelics 3 1 0 1 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 2 0 0 0 4
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 0 0 0 4
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 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 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
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
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

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