Variants studied for Developmental and epileptic encephalopathy, 23

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	total
52	24	654	646	42	1404

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DOCK7	50	24	644	634	38	1377
DOCK7, LOC129930655	0	0	6	8	1	15
ANGPTL3, DOCK7	2	0	3	4	3	11
ALG6, ATG4C, DOCK7, FOXD3	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	44	13	639	635	40	1371
Genome-Nilou Lab	2	3	90	31	16	142
Revvity Omics, Revvity	0	1	8	0	0	9
Fulgent Genetics, Fulgent Genetics	0	1	6	2	0	9
Baylor Genetics	0	0	8	0	0	8
OMIM	4	0	0	0	0	4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	3	0	0	3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	2	1	0	0	3
Mendelics	0	2	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	0	2
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	2	0	0	2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	2	0	0	2
New York Genome Center	0	0	2	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	2
Hadassah Hebrew University Medical Center	0	1	0	0	0	1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
3billion	1	0	0	0	0	1

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