ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease axonal type 2T

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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 risk factor total
16 18 15 0 0 3 49

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor total
MME 15 18 15 3 48
DNAJB2 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance risk factor total
OMIM 5 0 0 3 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 2 4 0 6
MGZ Medical Genetics Center 2 1 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 3
Baylor Genetics 1 0 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 1 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 2
3billion, Medical Genetics 1 0 1 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 2
Department of Neurology, Shenzhen Hospital, Southern Medical University 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 1
Human Genetics Research Center, Baqiyatallah University of Medical Sciences 1 0 0 0 1
CMT Laboratory, Bogazici University 1 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 0 1 0 1

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