ClinVar Miner

Variants in gene CHD8

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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 risk factor not provided total
45 23 79 59 31 8 1 222

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 28 11 48 26 25 0 0 130
History of neurodevelopmental disorder 2 0 20 35 16 0 0 73
Autism, susceptibility to, 18 10 9 1 2 0 8 1 31
Inborn genetic diseases 4 1 5 0 0 0 0 10
not specified 0 0 2 3 5 0 0 10
Autistic disorder of childhood onset; Autistic behavior; Overgrowth; Macrocephalus; Intellectual disability 1 0 0 0 0 0 0 1
CHD8-Related Disorders 0 0 0 0 0 0 1 1
Congenital atresia of colon; Obesity; Hydronephrosis; High palate; Eczema; Petechiae; Purpura; Intellectual disability; Intellectual disability, mild; Frontoparietal polymicrogyria; Cerebral dysmyelination; Presacral teratoma; Prominence of the premaxilla; Odontogenic neoplasm; Alopecia; Thrombocytopenia 0 0 1 0 0 0 0 1
Congenital cerebellar hypoplasia; Motor delay; Delayed speech and language development; Intellectual disability; Truncal obesity 0 0 1 0 0 0 0 1
Ebstein anomaly of the tricuspid valve; Psychosis; Intellectual disability, mild; Hypercholesterolemia; Renal malrotation; Extraadrenal pheochromocytoma; Subvalvular aortic stenosis; Hypertensive disorder 0 0 1 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 0 0 1
Overgrowth; Macrocephalus; Fatigable weakness; Increased muscle fatiguability; Congenital ptosis 0 1 0 0 0 0 0 1
Status epilepticus; Global developmental delay; Seizures; Overgrowth; Hypomelanotic macule; Perivascular spaces 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Ambry Genetics 6 1 25 35 16 0 0 83
Invitae 0 0 3 25 25 0 0 53
GeneDx 21 8 15 0 0 0 0 44
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 25 3 5 0 0 35
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 5 1 0 0 0 10
OMIM 0 0 0 0 0 8 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 4 0 0 0 0 5
Baylor Genetics 2 1 0 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 1 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 0 1
Lineagen, Inc 1 0 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 0 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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