ClinVar Miner

Variants in gene DNM2

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Minimum submission review status: Collection method:
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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
19 13 174 186 54 5 386

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 9 6 53 96 38 0 186
not specified 0 0 5 90 29 5 114
Charcot-Marie-Tooth disease, dominant intermediate B 7 5 94 6 1 0 113
Centronuclear Myopathy, Dominant 0 0 23 35 3 0 61
Charcot-Marie-Tooth, Intermediate 0 0 23 35 3 0 61
Myopathy, centronuclear 7 2 4 0 0 0 13
Charcot-Marie-Tooth disease 0 1 7 0 0 0 8
Myopathy, centronuclear, 1 5 1 2 0 0 0 8
Charcot-Marie-Tooth disease, type 2M 3 0 0 0 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
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
Lethal congenital contracture syndrome 5 1 0 0 0 0 0 1
Muscular Diseases 1 0 0 0 0 0 1
Myofibrillar myopathy; Limb-girdle muscle weakness 0 0 1 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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 3 94 86 26 0 215
GeneDx 6 5 26 93 22 0 152
Illumina Clinical Services Laboratory,Illumina 0 0 23 35 3 0 61
Athena Diagnostics Inc 2 0 14 6 15 0 37
Genetic Services Laboratory, University of Chicago 7 3 5 6 8 0 29
PreventionGenetics,PreventionGenetics 0 0 0 6 10 0 16
OMIM 13 0 0 0 0 0 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 6 3 3 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 10 1 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 3 0 7
Inherited Neuropathy Consortium 0 0 7 0 0 0 7
ITMI 0 0 0 0 0 5 5
Baylor Genetics 2 0 1 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 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
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 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
Clinical Genetics, Erasmus University Medical Center 0 0 1 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

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