Variants studied for Seizures, benign familial infantile, 3

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
29	28	89	25	55	221

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
SCN2A	29	28	81	23	55	211
LOC120977013, SCN2A	0	0	8	0	0	8
ATP1A2	0	0	0	2	0	2

Submitter and significance breakdown #

Total submitters: 28

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	69	21	50	140
Mendelics	13	12	3	1	2	31
OMIM	8	0	0	0	0	8
Institute of Human Genetics, University of Leipzig Medical Center	2	2	3	0	0	7
Genome-Nilou Lab	0	0	0	0	6	6
Génétique des Maladies du Développement, Hospices Civils de Lyon	3	1	0	1	0	5
MGZ Medical Genetics Center	1	0	3	0	0	4
Genetic Services Laboratory, University of Chicago	3	0	0	0	0	3
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	3	0	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	2	0	0	3
Neurology Department, Shenzhen Children's Hospital	3	0	0	0	0	3
Baylor Genetics	0	1	1	0	0	2
Institute of Human Genetics, Cologne University	0	1	1	0	0	2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	1	0	1	0	0	2
Cell and Molecular Biology Laboratory, University of the Punjab Lahore	0	0	0	2	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	1
New York Genome Center	0	0	1	0	0	1
Sydney Genome Diagnostics, Children's Hospital Westmead	1	0	0	0	0	1
3billion	0	0	1	0	0	1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	1	0	0	0	1
Department of Neurology, Children’s Hospital of Chongqing Medical University	0	1	0	0	0	1
Institute of Immunology and Genetics Kaiserslautern	0	1	0	0	0	1
Solve-RD Consortium	0	1	0	0	0	1

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