ClinVar Miner

Variants in gene DOCK8

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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
52 25 633 272 198 4 1114

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 37 16 538 158 75 3 787
not provided 12 9 84 74 103 0 281
not specified 0 0 10 60 50 0 117
See cases 2 1 25 14 14 0 54
Intellectual disability 0 0 7 9 0 0 16
Hyper-IgE syndrome 0 0 5 2 1 0 8
Inborn genetic diseases 1 0 2 0 0 0 3
Inherited Immunodeficiency Diseases 1 1 0 0 0 0 2
Autistic disorder of childhood onset 1 0 0 0 0 0 1
Mental retardation, autosomal dominant 2 0 0 1 0 0 0 1
Normal pregnancy 0 0 0 0 0 1 1
Premature ovarian failure 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 28 15 418 179 48 0 688
GeneDx 10 4 33 71 116 0 234
Illumina Clinical Services Laboratory,Illumina 0 0 140 16 48 0 204
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 5 5 36 0 46
Lineagen, Inc 0 0 27 0 0 0 27
Baylor Genetics 2 0 20 0 0 0 22
ISCA site 4 1 0 7 7 8 0 22
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 15 2 0 0 19
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 18 0 18
PreventionGenetics, PreventionGenetics 0 0 0 0 16 0 16
Quest Diagnostics Nichols Institute San Juan Capistrano 2 1 13 0 0 0 16
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 6 9 0 0 15
ISCA site 6 0 1 4 3 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 3 2 0 8
ISCA site 1 0 0 5 2 0 0 7
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 2 0 0 0 4 0 6
OMIM 5 0 0 0 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 4 0 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 4 1 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 3 0 0 0 4
Ambry Genetics 1 0 2 0 0 0 3
Mendelics 0 0 3 0 0 0 3
ISCA site 17 0 0 1 0 2 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
New York Genome Center 0 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
ISCA site 14 0 0 1 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
ISCA site 3 0 0 1 0 0 0 1
ISCA site 8 0 0 0 0 1 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Medical Genetics Laboratory,CHRU Nancy 1 0 0 0 0 0 1

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