Variants studied for Developmental and epileptic encephalopathy, 41

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
4	6	27	3	6	45

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SLC1A2	4	6	27	3	6	45

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Revvity Omics, Revvity	0	0	12	0	0	12
Genome-Nilou Lab	0	0	0	0	6	6
OMIM	4	0	0	0	0	4
Neuberg Centre For Genomic Medicine, NCGM	0	0	4	0	0	4
Neurogenetics, Research Centre for Medical Genetics	0	3	1	0	0	4
Baylor Genetics	0	0	2	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	2	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	0	1	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	0	0	1	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	1	0	0	1
SIB Swiss Institute of Bioinformatics	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	1	0	0	1
Laboratory of Medical Genetics, University of Torino	0	1	0	0	0	1
Center of Excellence for Medical Genomics, Chulalongkorn University	1	0	0	0	0	1
New York Genome Center	0	0	1	0	0	1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine	0	1	0	0	0	1
3billion	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1

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