Variants studied for Developmental and epileptic encephalopathy 97

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
7	2	7	0	0	15

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
CELF2	7	2	6	14
KCNT1	0	0	1	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	3	0	0	3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	1	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	1
Mendelics	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	1	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	0	1	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences	0	0	1	1

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