Variants studied for DOCK2 deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	374	481	62	3	939

Gene and significance breakdown #

Total genes and gene combinations: 6

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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, GABRP, INSYN2B, KCNIP1, KCNMB1, LCP2, LOC100128059	0	0	1	0	0	0	1
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	363	481	60	0	923
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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