Variants studied for developmental and epileptic encephalopathy, 48

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
12	8	17	3	0	39

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
AP3B2, CPEB1	12	6	16	2	35
AP3B2, LOC130057772	0	1	1	1	3
AP3B2	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Baylor Genetics	1	0	6	0	7
Revvity Omics, Revvity	2	2	3	0	7
OMIM	6	0	0	0	6
New York Genome Center	0	1	4	0	5
3billion, Medical Genetics	0	1	1	1	3
Fulgent Genetics, Fulgent Genetics	0	0	0	2	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	2	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	2	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	1
Mendelics	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	1
Genoks Genetic Disorders Diagnostic Laboratory	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	1

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