Variants studied for Developmental and epileptic encephalopathy, 38

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
5	5	6	0	1	15

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
ARV1	5	5	4	1	13
ARV1, LOC129932761	0	0	2	0	2

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	3	0	0	0	3
Baylor Genetics	0	1	1	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	1	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	1	1	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	1
Revvity Omics, Revvity	0	0	1	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	1
Undiagnosed Diseases Network, NIH	0	0	1	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	1
Fetal Health Research Center, Hope Generation Foundation	0	1	0	0	1

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