Variants studied for Developmental and epileptic encephalopathy, 16

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
13	6	9	0	0	27

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
TBC1D24	8	6	9	22
GLUL	5	0	0	5

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	9	0	0	9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	1	0	3
Division of Medical Genetics; Sainte-Justine Hospital	3	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	0	3	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	2
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	2	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	1	1	2
New York Genome Center	0	0	2	2
3billion	0	0	2	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	1
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	1

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