ClinVar Miner

Variants in gene CHD2

Minimum submission review status: Collection method:
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Gene type:
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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
75 24 142 194 37 1 429

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 13 145 30 0 183
Epileptic encephalopathy, childhood-onset 46 6 69 34 26 1 181
not provided 26 15 60 4 13 0 117
History of neurodevelopmental disorder 1 1 12 43 13 0 70
Inborn genetic diseases 4 3 3 0 0 0 10
Rolandic epilepsy 4 0 0 0 0 0 4
See cases 1 0 1 0 0 0 2
Growth delay; Hypoplasia of the corpus callosum; Abnormal facial shape; Abnormality of the pinna; Microcephaly; Sparse and thin eyebrow; Abnormality of the optic nerve; Sparse scalp hair; Downturned corners of mouth; CNS hypomyelination; Postnatal microcephaly 0 0 0 1 0 0 1
Malignant tumor of prostate 0 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 not provided total
GeneDx 25 13 53 143 30 0 264
Invitae 14 3 61 34 26 0 138
Ambry Genetics 5 4 14 43 13 0 79
GeneReviews 23 0 0 0 0 0 23
Athena Diagnostics Inc 0 0 2 1 12 0 15
PreventionGenetics 0 0 0 2 11 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 7 2 0 0 11
OMIM 10 0 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 0 0 5 2 0 0 7
Fulgent Genetics 1 0 4 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 1 0 0 5
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 4 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 3 0 0 0 4
Baylor Miraca Genetics Laboratories, 1 0 2 0 0 0 3
HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 2 0 0 0 0 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 2 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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