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
15 13 398 482 74 12 962

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 14 13 363 469 58 3 911
Inborn genetic diseases 0 0 61 1 0 0 62
not provided 1 0 11 16 0 9 37
not specified 0 0 1 0 26 0 27
DOCK2-related condition 0 0 5 13 3 0 21
See cases 0 0 3 0 0 0 3
Associated with severe COVID-19 disease 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 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
Invitae 8 10 353 470 56 0 897
Ambry Genetics 0 0 61 1 0 0 62
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 26 0 26
PreventionGenetics, part of Exact Sciences 0 0 5 13 3 0 21
CeGaT Center for Human Genetics Tuebingen 1 0 3 11 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
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
GeneDx 0 0 1 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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