ClinVar Miner

Variants in gene DNM2

See also:
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
23 16 317 219 77 5 580

Condition and significance breakdown #

Total conditions: 19
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease, dominant intermediate B 11 4 257 125 58 0 437
not provided 9 7 56 55 20 0 142
not specified 0 0 5 89 30 5 114
Myopathy, centronuclear, 1 8 1 49 9 42 0 108
Centronuclear myopathy 7 2 4 0 0 0 13
none provided 0 0 2 2 7 0 11
Charcot-Marie-Tooth disease 0 2 7 0 0 0 9
Centronuclear Myopathy, Dominant 0 0 1 2 0 0 3
Charcot-Marie-Tooth disease, type 2M 3 0 0 0 0 0 3
Charcot-Marie-Tooth, Intermediate 0 0 1 2 0 0 3
Charcot-Marie-Tooth disease, dominant intermediate B; Myopathy, centronuclear, 1; Lethal congenital contracture syndrome 5 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia 2 0 0 0 0 0 2
Severe X-linked myotubular myopathy 2 0 0 0 0 0 2
Lethal congenital contracture syndrome 5 1 0 0 0 0 0 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
Peripheral neuropathy 0 0 1 0 0 0 1
Sensorimotor neuropathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 3 221 138 26 0 398
GeneDx 6 5 26 93 22 0 152
Illumina Clinical Services Laboratory,Illumina 0 0 42 12 49 0 95
Athena Diagnostics Inc 2 0 17 5 19 0 43
Genetic Services Laboratory, University of Chicago 7 3 5 6 8 0 29
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 4 9 0 17
PreventionGenetics, PreventionGenetics 0 0 0 6 10 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 9 3 0 0 14
OMIM 13 0 0 0 0 0 13
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 6 3 3 0 13
Inherited Neuropathy Consortium 0 1 7 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 4 0 0 0 7
Baylor Genetics 2 0 4 0 0 0 6
ITMI 0 0 0 0 0 5 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 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
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 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
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.