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 9 320 233 87 1 585

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary sensory neuropathy type IE 4 3 260 154 65 0 453
not provided 3 1 64 65 20 0 150
not specified 0 0 9 60 23 0 85
none provided 0 0 1 5 11 0 17
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 3 3 5 0 0 0 10
Dementia, Deafness, and Sensory Neuropathy 0 0 3 0 2 0 5
Charcot-Marie-Tooth disease 0 0 4 0 0 0 4
Beckwith-Wiedemann syndrome 0 0 3 0 0 0 3
Ataxia 0 0 1 0 0 0 1
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; Hereditary sensory neuropathy type IE 0 0 1 0 0 0 1
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
Meningioma 0 1 0 0 0 0 1
Pituitary stalk interruption syndrome 0 1 0 0 0 0 1
Sleep disturbance; Choreoathetosis; Chorea; Paroxysmal choreoathetosis; Paroxysmal dyskinesia 0 0 1 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 2 2 230 174 31 0 439
GeneDx 2 1 29 56 29 0 117
Illumina Clinical Services Laboratory,Illumina 0 0 34 17 55 0 106
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 7 11 14 0 32
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 22 3 4 0 29
PreventionGenetics, PreventionGenetics 0 0 0 6 8 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 10 2 0 0 13
OMIM 6 0 0 0 0 0 6
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
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
Baylor Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Human Developmental Genetics,Institut Pasteur 0 1 0 0 0 0 1

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