ClinVar Miner

Variants in gene DNM2

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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
25 22 572 539 94 6 1117

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease dominant intermediate B 15 7 474 453 68 0 978
not provided 14 8 127 88 45 0 264
Inborn genetic diseases 0 1 58 82 0 0 141
Autosomal dominant centronuclear myopathy 10 3 46 9 43 0 110
not specified 0 0 9 67 31 5 98
Centronuclear myopathy 7 2 4 0 0 0 13
Charcot-Marie-Tooth disease 0 2 7 0 0 0 9
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Fetal akinesia-cerebral and retinal hemorrhage syndrome 1 0 3 1 1 0 6
Autosomal dominant Charcot-Marie-Tooth disease type 2M 3 0 0 0 0 0 3
Centronuclear Myopathy, Dominant 0 0 1 2 0 0 3
Charcot-Marie-Tooth, Intermediate 0 0 1 2 0 0 3
Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia 2 0 0 0 0 0 2
DNM2-related condition 0 0 2 0 0 0 2
Fetal akinesia-cerebral and retinal hemorrhage syndrome 1 0 0 0 1 0 2
Peripheral neuropathy 0 0 2 0 0 0 2
Severe X-linked myotubular myopathy 2 0 0 0 0 0 2
Abnormality of the musculature 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Autosomal dominant Charcot-Marie-Tooth disease type 2M; Fetal akinesia-cerebral and retinal hemorrhage syndrome 0 0 0 0 0 1 1
Moyamoya angiopathy 0 1 0 0 0 0 1
Myofibrillar myopathy; Limb-girdle muscle weakness 0 0 1 0 0 0 1
Myopathy 1 0 0 0 0 0 1
See cases 0 1 0 0 0 0 1
Sensorimotor neuropathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 5 412 454 38 0 923
GeneDx 12 5 45 115 43 0 220
Ambry Genetics 0 1 58 82 0 0 141
Illumina Laboratory Services, Illumina 0 0 38 12 49 0 91
Revvity Omics, Revvity Omics 6 0 51 0 0 0 57
Athena Diagnostics Inc 2 1 25 5 23 0 56
CeGaT Center for Human Genetics Tuebingen 1 1 12 20 4 0 38
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 32 0 0 0 32
Genetic Services Laboratory, University of Chicago 7 3 5 6 8 0 29
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 6 12 0 22
Preventiongenetics, part of Exact Sciences 0 0 2 6 10 0 18
OMIM 13 0 0 0 0 0 13
Eurofins Ntd Llc (ga) 1 0 5 3 3 0 12
Inherited Neuropathy Consortium 0 1 7 0 0 0 8
Clinical Genetics, Academic Medical Center 0 0 0 2 5 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 4 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 3 2 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 1 4 0 6
Baylor Genetics 2 0 3 0 0 0 5
MGZ Medical Genetics Center 3 1 1 0 0 0 5
Fulgent Genetics, Fulgent Genetics 1 0 2 1 1 0 5
ITMI 0 0 0 0 0 5 5
Mendelics 1 0 2 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Center for Genetic Medicine Research, Children's National Medical Center 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
3billion 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 1 0 0 0 2
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Pediatric Department, Peking University First Hospital 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 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 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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