ClinVar Miner

Variants in gene DOCK8

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
141 82 1363 1369 322 85 3147

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Combined immunodeficiency due to DOCK8 deficiency 79 45 899 1148 120 6 2218
not provided 28 17 286 215 265 11 793
Inborn genetic diseases 1 0 275 11 0 0 287
not specified 1 0 83 104 112 0 277
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 38 13 98 0 0 0 149
DOCK8-related disorder 1 2 19 45 3 0 70
Intellectual disability 0 0 6 11 0 0 17
Severe combined immunodeficiency disease 4 7 0 0 0 0 11
Uterine corpus endometrial carcinoma 0 0 0 0 0 10 10
Lung cancer 0 0 0 0 0 9 9
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
See cases 0 1 4 3 0 0 8
Thymoma 0 0 0 0 0 8 8
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 8 8
Acute myeloid leukemia 0 0 0 0 0 7 7
Familial cancer of breast 0 0 0 0 0 6 6
Gastric cancer 0 0 0 0 0 6 6
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 5 5
Malignant tumor of esophagus 0 0 0 0 0 5 5
Hepatocellular carcinoma 0 0 0 0 0 4 4
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 3 3
Hepatoblastoma 0 0 3 0 0 0 3
Melanoma 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Inherited Immunodeficiency Diseases 1 1 0 0 0 0 2
Intellectual disability, autosomal dominant 2 0 0 2 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Autism 1 0 0 0 0 0 1
Colorectal cancer 0 0 0 0 0 1 1
Lymphoma 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Normal pregnancy 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Premature ovarian failure 0 0 0 0 1 0 1
Susceptibility to severe COVID-19 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 104 40 979 1144 96 0 2363
GeneDx 11 4 69 175 261 0 520
Ambry Genetics 1 0 280 12 0 0 292
Breakthrough Genomics, Breakthrough Genomics 0 0 14 44 143 0 201
Illumina Laboratory Services, Illumina 0 0 129 14 44 0 187
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 8 43 43 35 0 134
CeGaT Center for Human Genetics Tuebingen 2 2 32 55 3 0 94
Mayo Clinic Laboratories, Mayo Clinic 1 0 29 21 40 0 91
PreventionGenetics, part of Exact Sciences 1 2 19 45 17 0 84
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 68 68
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 62 0 62
Genetic Services Laboratory, University of Chicago 0 0 22 14 9 0 45
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 5 5 34 0 44
Bionano Laboratories 0 0 27 0 0 0 27
Genome-Nilou Lab 0 0 0 0 26 0 26
Quest Diagnostics Nichols Institute San Juan Capistrano 4 1 19 0 0 0 24
Fulgent Genetics, Fulgent Genetics 2 10 10 1 0 0 23
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 8 14 0 23
Baylor Genetics 2 0 19 0 0 0 21
Revvity Omics, Revvity 0 3 15 0 0 0 18
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 6 9 0 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 5 6 3 0 15
GenomeConnect, ClinGen 0 0 0 0 0 14 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 10 0 13
Neuberg Centre For Genomic Medicine, NCGM 1 4 6 0 0 0 11
OMIM 10 0 0 0 0 0 10
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 8 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 2 3 2 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 4 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 6 0 0 0 7
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 4 0 5
ISCA Site 6 0 1 2 2 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 3 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 5 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 3 1 0 0 4
Mendelics 0 1 3 0 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 3 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 3 0 0 0 3
3billion 0 0 1 1 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 2 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 2 0 0 0 2
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Division of Clinical Immunology and Allergy, Necmettin Erbakan University, Faculty of Medicine 0 0 1 1 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 1 0 2
ISCA site 1 0 0 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Next Generation Genetic Polyclinic 0 2 0 0 0 0 2
Athena Diagnostics 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Blueprint Genetics 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
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
The Clinical Immunogenomics Research Consortium Australasia, Garvan Institute of Medical Research 0 0 0 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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