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 not provided total
63 39 112 4 7 15 214

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 62 38 111 4 7 15 211
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: 48
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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
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 0 0 0 0 4
3billion 1 1 2 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 Inc 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 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 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
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 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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