Variants studied for Developmental and epileptic encephalopathy, 50

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
10	11	38	7	3	68

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CAD	10	10	30	4	3	56
CAD, LOC126806171	0	1	4	2	0	7
CAD, LOC126806172	0	0	4	1	0	5

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	0	0	17	0	0	17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	3	5	2	10
Fulgent Genetics, Fulgent Genetics	0	8	1	1	0	10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	6	0	0	8
OMIM	5	0	0	0	0	5
Revvity Omics, Revvity	0	1	4	0	0	5
Mendelics	1	1	0	1	0	3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	1	0	0	0	3
New York Genome Center	0	1	2	0	0	3
Institute of Human Genetics, Cologne University	0	0	2	0	0	2
Illumina Laboratory Services, Illumina	0	0	2	0	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	1	1	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory	1	0	0	0	0	1

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