ClinVar Miner

Variants in gene DOCK3

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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
10 5 165 38 6 1 216

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 2 0 138 3 0 0 143
not provided 2 0 17 23 5 0 44
DOCK3-related disorder 0 4 2 23 3 0 32
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 7 1 11 0 1 1 19
not specified 0 0 6 0 0 0 6
Global developmental delay; Hypotonia 2 0 0 0 0 0 2
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 2 0 138 3 0 0 143
PreventionGenetics, part of Exact Sciences 0 4 2 23 3 0 32
CeGaT Center for Human Genetics Tuebingen 2 0 9 20 0 0 31
Labcorp Genetics (formerly Invitae), Labcorp 0 0 2 4 4 0 10
OMIM 7 0 0 0 0 0 7
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 4 0 7
Baylor Genetics 0 0 4 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 3 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 3
GeneDx 0 0 0 1 1 0 2
Mendelics 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
The Division of Genetics and Genomic Medicine, Washington University School of Medicine 2 0 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1

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