ClinVar Miner

Variants in gene DOCK8

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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 not provided total
112 51 1080 1014 338 17 2471

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal recessive hyper-IgE syndrome 40 12 555 796 96 0 1499
Combined immunodeficiency due to DOCK8 deficiency 63 26 424 35 64 5 607
not provided 17 9 135 184 255 11 596
not specified 0 0 39 66 102 0 201
Inborn genetic diseases 1 0 76 4 0 0 81
Intellectual disability 0 0 7 9 0 0 16
DOCK8-related condition 0 1 8 0 0 0 9
Severe combined immunodeficiency disease 2 7 0 0 0 0 9
See cases 0 1 4 3 0 0 8
Hyper-IgE syndrome 0 0 5 2 0 0 7
Hepatoblastoma 0 0 3 0 0 0 3
Inherited Immunodeficiency Diseases 1 1 0 0 0 0 2
Autism 1 0 0 0 0 0 1
Intellectual disability, 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: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 82 27 839 829 96 0 1873
GeneDx 11 3 56 175 261 0 506
Illumina Laboratory Services, Illumina 0 0 135 16 44 0 195
Ambry Genetics 1 0 76 4 0 0 81
CeGaT Center for Human Genetics Tuebingen 1 2 28 36 2 0 69
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 62 0 62
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 5 5 34 0 44
Genetic Services Laboratory, University of Chicago 0 0 19 14 9 0 42
Bionano Laboratories 0 0 27 0 0 0 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 7 10 5 1 0 26
Genome-Nilou Lab 0 0 0 0 26 0 26
Quest Diagnostics Nichols Institute San Juan Capistrano 4 1 19 0 0 0 24
Preventiongenetics, part of Exact Sciences 0 1 8 0 14 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
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 18 0 18
Revvity Omics, Revvity Omics 0 2 14 0 0 0 16
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
OMIM 10 0 0 0 0 0 10
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 4 4 0 0 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 2 3 2 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 5 1 0 0 6
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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 4 0 5
New York Genome Center 0 0 5 0 0 0 5
Mendelics 0 1 3 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 3 1 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 3 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 3 0 0 0 3
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 3 0 0 0 3
ISCA site 1 0 0 1 1 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis 2 0 0 0 0 0 2
Athena Diagnostics Inc 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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 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
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1

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