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
64 13 198 126 48 391

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Chromosome 9q deletion syndrome 23 6 123 73 41 245
not provided 35 4 60 4 2 105
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
Chromosome 9q deletion syndrome; Autism spectrum disorder 1 0 0 0 0 1
Global developmental delay; Abnormal facial shape; Polymicrogyria; Difficulty walking 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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 1 86 40 33 162
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 34 3 7 0 0 44
GeneReviews 16 0 0 0 0 16
Fulgent Genetics 0 0 7 0 0 7
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
OMIM 4 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 4
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 2 1 0 0 4
Baylor Miraca Genetics Laboratories, 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 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
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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 1

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