ClinVar Miner

Variants studied for Combined immunodeficiency due to DOCK8 deficiency

Coded as:
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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 not provided total
72 30 456 36 67 5 656

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DOCK8 64 26 428 35 64 5 612
DOCK8, LOC126860552 1 1 8 1 2 0 13
DOCK8, LOC126860552, LOC130001437, LOC130001438, LOC130001439, LOC130001440 3 0 6 0 0 0 9
DOCK8, LOC130001437 1 0 5 0 0 0 6
DOCK8, KANK1 0 0 4 0 0 0 4
DOCK8, LOC126860552, LOC130001439, LOC130001440 0 3 1 0 0 0 4
DOCK8, LOC130001436 0 0 1 0 1 0 2
CCDC40 1 0 0 0 0 0 1
DMRT1, DOCK8, KANK1 0 0 1 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 47 19 306 21 0 0 393
Illumina Laboratory Services, Illumina 0 0 135 14 47 0 196
Genome-Nilou Lab 0 0 0 0 27 0 27
Baylor Genetics 2 0 20 0 0 0 22
Revvity Omics, Revvity 0 2 14 0 0 0 16
OMIM 11 0 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 2 4 4 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 5 1 0 0 6
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 0 0 0 4 0 6
Mendelics 0 1 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
New York Genome Center 0 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 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
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
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
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 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
3billion 0 0 1 0 0 0 1

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