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
6 3 145 108 33 1 260

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary sensory neuropathy type IE 3 1 68 39 20 0 130
not specified 0 0 8 58 20 0 82
Dementia, Deafness, and Sensory Neuropathy 0 0 25 35 10 0 70
not provided 2 1 50 2 2 0 56
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 3 0 1 0 0 0 4
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
Sleep disturbance; Choreoathetosis; Chorea; Paroxysmal choreoathetosis; Paroxysmal dyskinesia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 67 39 20 0 126
GeneDx 2 1 29 52 13 0 97
Illumina Clinical Services Laboratory,Illumina 0 0 25 35 10 0 70
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 22 3 4 0 29
PreventionGenetics 0 0 0 6 8 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 2 3 0 10
OMIM 6 0 0 0 0 0 6
Inherited Neuropathy Consortium 0 0 4 0 0 0 4
Genetics and Molecular Pathology Laboratory,Hudson Institute of Medical Research 0 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Mayo Clinic Genetic Testing 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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

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