ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2A2

Included ClinVar conditions (7):
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
31 34 38 4 2 4 105

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MFN2 31 34 27 4 2 4 94
ATP1A1 0 0 7 0 0 0 7
DHTKD1 0 0 4 0 0 0 4

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 14 0 0 0 0 0 14
Inherited Neuropathy Consortium Ii, University Of Miami 1 0 11 0 0 0 12
Baylor Genetics 4 0 7 0 0 0 11
Mendelics 1 5 3 1 1 0 11
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 8 2 0 0 0 0 10
Fulgent Genetics, Fulgent Genetics 3 0 1 4 1 0 9
3billion, Medical Genetics 7 0 1 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 2 4 0 0 0 8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 3 0 0 0 0 7
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 3 2 0 0 0 0 5
Athena Diagnostics 3 1 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 4
MGZ Medical Genetics Center 1 1 1 0 0 0 3
CMT Laboratory, Bogazici University 3 0 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 2 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Genome-Nilou Lab 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1

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