ClinVar Miner

Variants in gene DOCK2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
16 13 430 581 74 12 1092

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DOCK2 deficiency 15 13 372 566 58 3 1018
Inborn genetic diseases 0 0 103 3 0 0 106
not provided 1 0 17 23 0 9 50
not specified 0 0 1 0 26 0 27
DOCK2-related disorder 0 0 5 15 3 0 23
See cases 0 0 3 0 0 0 3
Associated with severe COVID-19 disease 0 0 1 0 0 0 1
Prostate cancer 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 9 10 360 567 56 0 1002
Ambry Genetics 0 0 103 3 0 0 106
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 26 0 26
PreventionGenetics, part of Exact Sciences 0 0 5 15 3 0 23
CeGaT Center for Human Genetics Tuebingen 1 0 4 13 0 0 18
Breakthrough Genomics, Breakthrough Genomics 0 0 6 9 0 0 15
Baylor Genetics 0 1 9 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 10 10
Genome-Nilou Lab 0 0 0 0 8 0 8
Blueprint Genetics 0 0 6 0 0 0 6
OMIM 5 0 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 0 0 0 5
Revvity Omics, Revvity 0 0 3 0 0 0 3
Mendelics 0 0 2 0 1 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 1 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
GeneDx 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Prostate Cancer Research Center, Institute of Biosciences and Medical Technology, University of Tampere 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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