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)

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
18	14	392	656	62	3	1136

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	17	14	380	635	58	3	1098
DOCK2, LOC126807589	0	0	8	15	4	0	27
DOCK2, LOC129995219	0	0	2	6	0	0	8
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: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	12	10	378	656	60	0	1116
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	1	4	0	0	0	5
Fulgent Genetics, Fulgent Genetics	0	0	2	0	1	0	3
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	3	3
Mendelics	0	0	2	0	1	0	3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	2	0	0	0	2
Dubai Health Genomic Medicine Center, Dubai Health	0	0	1	0	0	0	1
Genetics Laboratory, Department of Biology, Semnan University	1	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	0	1

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