ClinVar Miner

Variants in gene DNMT1

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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
7 10 591 662 138 2 1267

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary sensory neuropathy-deafness-dementia syndrome 5 3 480 564 86 0 1093
not provided 3 1 128 124 93 0 322
Inborn genetic diseases 0 0 69 41 0 0 110
not specified 0 0 9 33 25 0 65
Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 18 6 1 1 26
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 4 3 5 0 6 0 17
Dementia, Deafness, and Sensory Neuropathy 0 0 3 0 2 0 5
Charcot-Marie-Tooth disease 0 0 4 0 0 0 4
DNMT1-related condition 0 0 4 0 0 0 4
Beckwith-Wiedemann syndrome 0 0 3 0 0 0 3
Cerebellar ataxia; Cerebral atrophy; Dysarthria; Dysphagia; Cerebellar atrophy; Acanthocytosis; Chorea 0 0 1 0 0 0 1
DNMT1-Related Disorder 0 0 0 0 0 1 1
Dyssynergia 0 0 1 0 0 0 1
Meningioma 0 1 0 0 0 0 1
Pituitary stalk interruption syndrome 0 1 0 0 0 0 1
Sleep abnormality; Choreoathetosis; Chorea; Paroxysmal choreoathetosis; Paroxysmal dyskinesia 0 0 1 0 0 0 1
Spastic ataxia 0 1 0 0 0 0 1
Spastic paraparesis 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 1 434 562 58 0 1058
GeneDx 3 1 76 102 96 0 278
Ambry Genetics 0 0 69 41 0 0 110
Illumina Laboratory Services, Illumina 0 0 34 17 52 0 103
CeGaT Center for Human Genetics Tuebingen 1 0 19 32 5 0 57
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 14 14 0 35
Eurofins Ntd Llc (ga) 0 0 21 3 4 0 28
Clinical Genetics, Academic Medical Center 0 0 1 8 15 0 24
Fulgent Genetics, Fulgent Genetics 0 0 17 6 1 0 24
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 14 8 0 23
Preventiongenetics, part of Exact Sciences 0 0 4 6 8 0 18
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 15 0 0 0 15
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 10 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 8 2 0 10
OMIM 6 0 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 5 0 5
Revvity Omics, Revvity Omics 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Inherited Neuropathy Consortium 0 0 4 0 0 0 4
Athena Diagnostics Inc 0 0 1 0 2 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Genetics and Molecular Pathology Laboratory, Hudson Institute of Medical Research 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 1 0 0 0 0 1

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