ClinVar Miner

Variants studied for DOCK2 deficiency

Coded as:
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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
15 13 373 481 62 3 938

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DOCK2 14 13 363 469 58 3 911
DOCK2, LOC126807589 0 0 7 8 4 0 19
DOCK2, LOC129995219 0 0 2 4 0 0 6
C5orf58, DOCK2, FOXI1, INSYN2B, MIR103A1, PANK3, RARS1, SLIT3, SPDL1, WWC1 1 0 0 0 0 0 1
DOCK2, INSYN2B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 10 362 481 60 0 922
Baylor Genetics 0 1 10 0 0 0 11
Genome-Nilou Lab 0 0 0 0 8 0 8
OMIM 5 0 0 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
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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