Variants studied for childhood onset epileptic encephalopathy

Minimum submission review status:		Collection method:
Minimum conflict level:
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	not provided	total
48	9	96	34	26	1	213

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	not provided	total
CHD2	48	9	96	34	26	1	213

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	17	6	88	34	26	0	171
GeneReviews	23	0	0	0	0	0	23
OMIM	10	0	0	0	0	0	10
Fulgent Genetics,Fulgent Genetics	1	0	4	0	0	0	5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	3	0	0	0	4
Baylor Genetics	1	0	2	0	0	0	3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	2	0	0	0	0	0	2
Laboratoire de Cytogenetique,Hospices Civils de Lyon	0	2	0	0	0	0	2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals	0	1	0	0	0	0	1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	1	0	0	0	0	0	1
Genomic Research Center,Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1

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