ClinVar Miner

Variants studied for Combined immunodeficiency due to DOCK8 deficiency

Coded as:
Minimum submission review status: Collection method:
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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
86 48 953 1192 126 6 2330

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DOCK8 79 45 899 1148 120 6 2218
DOCK8, LOC126860552 2 1 30 31 3 0 67
DOCK8, LOC130001437 1 0 12 13 2 0 26
DOCK8, LOC126860552, LOC130001437, LOC130001438, LOC130001439, LOC130001440 1 0 6 0 0 0 7
DOCK8, LOC126860552, LOC130001439, LOC130001440 0 2 1 0 0 0 3
DOCK8, KANK1 0 0 2 0 0 0 2
DOCK8, LOC130001436 0 0 1 0 1 0 2
CCDC40 1 0 0 0 0 0 1
DOCK8, LOC110120718, LOC126860552, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440, ZNG1A 1 0 0 0 0 0 1
DOCK8, LOC126860552, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440 1 0 0 0 0 0 1
DOCK8, LOC130001437, LOC130001438 0 0 1 0 0 0 1
DOCK8, LOC130001438 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 61 24 799 1178 101 0 2163
Illumina Laboratory Services, Illumina 0 0 134 14 47 0 195
Genome-Nilou Lab 0 0 0 0 27 0 27
Fulgent Genetics, Fulgent Genetics 2 10 12 1 0 0 25
Baylor Genetics 2 0 20 0 0 0 22
Revvity Omics, Revvity 0 3 15 0 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 2 4 6 0 0 0 12
OMIM 11 0 0 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 4 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 6 0 0 0 7
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 0 0 0 4 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Mendelics 0 1 3 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 1 0 0 0 3
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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
New York Genome Center 0 0 3 0 0 0 3
3billion 0 0 1 1 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
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
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
Next Generation Genetic Polyclinic 0 2 0 0 0 0 2
Precision Medical Center, Wuhan Children's Hospital 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 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
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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