ClinVar Miner

Variants in gene DOCK8

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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
22 18 201 118 99 3 406

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 11 9 65 23 39 2 146
Hyper-IgE syndrome 0 0 75 25 14 0 114
not specified 0 0 8 60 48 0 113
not provided 9 9 50 4 20 0 91
See cases 2 1 25 14 14 0 54
Inborn genetic diseases 1 0 2 0 0 0 3
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: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 9 4 33 56 33 0 135
Invitae 4 9 61 23 35 0 132
Illumina Clinical Services Laboratory,Illumina 0 0 76 25 14 0 115
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 3 5 32 0 40
ISCA site 4 1 0 7 7 8 0 22
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 18 0 18
PreventionGenetics 0 0 0 0 16 0 16
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 9 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 9 1 0 0 11
ISCA site 6 0 1 4 3 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 3 2 0 8
ISCA site 1 0 0 5 2 0 0 7
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 2 0 0 0 4 0 6
OMIM 5 0 0 0 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 1 0 4 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 4 1 0 0 5
Ambry Genetics 1 0 2 0 0 0 3
ISCA site 17 0 0 1 0 2 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Fulgent Genetics 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Blueprint Genetics, 0 0 1 0 0 0 1
ISCA site 14 0 0 1 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
ISCA site 3 0 0 1 0 0 0 1
ISCA site 8 0 0 0 0 1 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 0 1

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