Variants studied for developmental and epileptic encephalopathy 93

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
9	6	15	3	0	33

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	total
ATP6V1A	9	6	15	3	33

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
OMIM	6	0	0	0	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	3	0	4
New York Genome Center	0	0	4	0	4
Institute of Human Genetics, University of Leipzig Medical Center	0	1	2	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	0	3	0	3
Institute of Human Genetics, University of Goettingen	0	0	0	2	2
Baylor Genetics	0	1	0	0	1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	0	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	1	0	0	1
Undiagnosed Diseases Network, NIH	0	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	1	0	0	1

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