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
73 19 231 221 72 532

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 38 5 63 128 52 268
Kleefstra syndrome 1 30 9 155 60 16 265
not specified 0 0 23 31 34 75
History of neurodevelopmental disorder 0 0 11 38 18 67
See cases 4 1 1 3 0 9
Inborn genetic diseases 4 1 0 0 0 5
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
Schizophrenia; Global developmental delay; Coarse facial features; Anteverted nares; Synophrys; Intellectual disability 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 1 114 141 58 317
Illumina Clinical Services Laboratory,Illumina 0 0 41 39 14 94
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 50 2 30 83
Ambry Genetics 4 1 11 38 18 72
Genetic Services Laboratory, University of Chicago 0 1 22 30 6 59
GeneDx 37 3 7 1 0 48
GeneReviews 16 0 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 7 1 0 9
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 4 1 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 4 0 0 0 5
OMIM 4 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 2 1 0 0 4
Baylor Genetics 3 0 0 0 0 3
ISCA site 1 2 0 1 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
BioTalentum Ltd. 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1

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