ClinVar Miner

Variants in gene EHMT1

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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 total
95 37 360 310 102 810

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Kleefstra syndrome 1 42 25 278 209 80 627
not provided 45 7 69 62 10 188
not specified 0 0 20 34 34 75
History of neurodevelopmental disorder 0 0 9 40 18 67
Intellectual disability 4 0 2 4 0 10
See cases 4 1 1 3 0 9
Inborn genetic diseases 5 1 2 0 0 8
Marfanoid habitus and intellectual disability 0 2 0 0 0 2
Global developmental delay; Abnormal facial shape; Polymicrogyria; Difficulty walking 1 0 0 0 0 1
Kleefstra syndrome 1; Autism spectrum disorder 1 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 1
Schizophrenia; Global developmental delay; Coarse facial features; Anteverted nares; Synophrys; Intellectual disability 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 7 262 240 88 603
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 50 2 30 83
Ambry Genetics 5 1 11 40 18 75
Genetic Services Laboratory, University of Chicago 0 1 19 33 6 59
GeneDx 37 3 7 1 0 48
CeGaT Praxis fuer Humangenetik Tuebingen 3 2 11 3 0 19
GeneReviews 16 0 0 0 0 16
Baylor Genetics 5 1 4 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 2 2 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 1 0 0 0 8
Mendelics 2 1 1 3 0 7
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 7
PreventionGenetics, PreventionGenetics 0 0 0 0 6 6
ISCA site 6 2 1 0 3 0 6
Illumina Clinical Services Laboratory,Illumina 0 0 2 3 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 3 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 4 1 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 4 0 5
Diagnostic Laboratory, Strasbourg University Hospital 4 0 1 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 4 0 0 0 5
OMIM 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 2 1 0 0 4
ISCA site 1 2 0 1 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 0 0 1 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 1 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 2
New York Genome Center 0 0 1 1 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 1
BioTalentum Ltd. 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 1
TIDEX, University of British Columbia 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1
Autoinflammatory diseases unit,CHU de Montpellier 0 1 0 0 0 1

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