Variants studied for Developmental and epileptic encephalopathy, 74

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
5	7	9	0	1	1	23

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
GABRG2	5	7	9	1	1	23

Submitter and significance breakdown #

Total submitters: 18

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
Institute of Human Genetics, University of Leipzig Medical Center	0	1	3	0	0	4
OMIM	3	0	0	0	0	3
Baylor Genetics	0	0	2	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	1	0	0	2
New York Genome Center	0	0	2	0	0	2
3billion, Medical Genetics	1	1	0	0	0	2
MGZ Medical Genetics Center	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	0	1
Undiagnosed Diseases Network, NIH	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	0	1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	1
Department of Developmental Neurology, Medical University of Gdańsk	0	0	0	0	1	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.