ClinVar Miner

Variants in gene MME

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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 not provided total
70 53 315 259 73 3 3 733

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 59 31 266 254 73 0 1 659
Inborn genetic diseases 0 0 65 1 0 0 0 66
Charcot-Marie-Tooth disease axonal type 2T 17 22 17 0 0 3 0 55
not specified 0 0 14 4 0 0 0 18
Charcot-Marie-Tooth disease axonal type 2T; Spinocerebellar ataxia 43 2 1 8 2 0 0 1 14
MME-related disorder 2 1 5 2 2 0 0 12
Spinocerebellar ataxia 43 5 2 4 0 0 0 0 11
See cases 1 0 2 1 0 0 0 4
Peripheral neuropathy 0 2 1 0 0 0 0 3
Charcot-Marie-Tooth disease type 2 0 1 1 0 0 0 0 2
MME-related autosomal dominant Charcot Marie Tooth disease type 2 0 0 2 0 0 0 0 2
Autosomal recessive axonal hereditary motor and sensory neuropathy 0 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease 0 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease axonal type 2T; MME-related autosomal dominant Charcot Marie Tooth disease type 2 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2T 1 0 0 0 0 0 0 1
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization 1 0 0 0 0 0 0 1
Early-onset dementia of unclear type 0 0 0 1 0 0 0 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 0 1
MME-related distal hereditary motor neuropathies 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 55 20 212 217 35 0 0 539
GeneDx 5 5 68 38 43 0 0 159
Ambry Genetics 0 0 65 1 0 0 0 66
CeGaT Center for Human Genetics Tuebingen 8 2 25 11 2 0 0 48
Breakthrough Genomics, Breakthrough Genomics 0 0 4 13 19 0 0 36
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 14 3 0 0 0 24
PreventionGenetics, part of Exact Sciences 2 1 5 2 2 0 0 12
OMIM 6 0 0 0 0 3 0 9
Revvity Omics, Revvity 1 4 4 0 0 0 0 9
Kariminejad - Najmabadi Pathology & Genetics Center 1 4 3 0 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 1 1 5 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 2 0 2 2 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 3 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 5 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 2 4 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 2 2 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 1 0 4 0 0 0 0 5
Clinical Genetics, Academic Medical Center 0 0 2 2 0 0 0 4
3billion 2 1 1 0 0 0 0 4
MGZ Medical Genetics Center 2 1 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 1 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 1 2 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 0 0 0 2
Bionano Laboratories 0 0 2 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 0 2
Department of Neurology, Shenzhen Hospital, Southern Medical University 0 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 0 0 0 0 0 0 1
ISCA Site 6 0 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 0 1
O&I group, Department of Genetics, University Medical Center of Groningen 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 0 1
Human Genetics Research Center, Baqiyatallah University of Medical Sciences 1 0 0 0 0 0 0 1
CMT Laboratory, Bogazici University 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Department of Neurology, Qujing First People's Hospital 1 0 0 0 0 0 0 1

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