ClinVar Miner

Variants studied for combined immunodeficiency due to DOCK8 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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
35 24 392 22 68 5 533

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 29 21 368 22 65 5 497
DOCK8, LOC126860552 1 1 7 0 2 0 11
DOCK8, LOC126860552, LOC130001437, LOC130001438, LOC130001439, LOC130001440 1 0 6 0 0 0 7
DOCK8, LOC130001437 1 0 5 0 0 0 6
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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 5 228 6 0 0 245
Illumina Laboratory Services, Illumina 0 0 135 14 47 0 196
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 2 14 0 0 0 16
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
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 0 0 0 4 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 3 0 0 0 5
Mendelics 0 1 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 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
3billion, Medical Genetics 0 0 1 1 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
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 0 0 1
The Clinical Immunogenomics Research Consortium Australasia, Garvan Institute of Medical Research 0 0 0 0 1 0 1

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