Variants studied for developmental and epileptic encephalopathy, 78

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
8	8	12	0	0	26

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
GABRA2	8	8	12	26

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	5	0	0	5
Revvity Omics, Revvity	0	0	5	5
Pediatric Neurology, Shengjing Hospital of China Medical University	1	4	0	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	2	1	3
Institute of Human Genetics, University of Leipzig Medical Center	0	0	2	2
New York Genome Center	0	0	2	2
Baylor Genetics	0	1	0	1
MGZ Medical Genetics Center	0	0	1	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	1	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	1	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	1

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