ClinVar Miner

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

Coded as:
Minimum submission review status: Collection method:
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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
67 46 114 4 7 15 224

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GJB1 66 45 113 4 7 15 221
DNAJB2 1 0 0 0 0 0 1
SACS 0 1 0 0 0 0 1
SBF1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inherited Neuropathy Consortium Ii, University Of Miami 7 0 88 0 0 0 95
OMIM 22 0 0 0 0 0 22
Illumina Laboratory Services, Illumina 2 0 8 2 6 0 18
Mendelics 10 3 0 1 0 0 14
GeneReviews 0 0 0 0 0 14 14
MGZ Medical Genetics Center 5 4 0 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 2 1 0 1 0 8
Fulgent Genetics, Fulgent Genetics 3 0 2 2 0 0 7
Revvity Omics, Revvity 1 2 3 0 0 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 4 1 0 0 0 0 5
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
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 0 0 0 0 4
3billion 1 1 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 4
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 2 2 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 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
Athena Diagnostics 2 0 0 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 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 0 2
Codex Genetics Limited 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 1 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
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Institute of Human Genetics, University of Wuerzburg 0 1 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
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
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
Department of Human Genetics, Hannover Medical School 0 1 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

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