Variants studied for Idiopathic generalized epilepsy

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
2	6	534	544	64	1148

Gene and significance breakdown #

Total genes and gene combinations: 15

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
RBFOX1	0	0	174	165	16	355
GABRD	0	0	146	165	20	331
RBFOX3	0	0	113	148	13	272
CACNB4	0	0	52	26	9	87
LOC126862278, RBFOX1	0	0	20	18	3	41
LOC126862279, RBFOX1	0	0	19	16	3	38
CACNB4, LOC129934925	0	0	5	6	0	11
ADGRV1	1	5	0	0	0	6
ABCB1	0	1	0	0	0	1
AFMID, BIRC5, C17orf99, C1QTNF1, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC40, CYTH1, DNAH17, EIF4A3, ENGASE, ENPP7, GAA, LGALS3BP, PGS1, RBFOX3, RNF213, SGSH, SLC26A11, SOCS3, SYNGR2, TBC1D16, TIMP2, TK1, TMC6, TMC8, TMEM235, USP36	0	0	1	0	0	1
ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FNDC10, GABRD, GNB1, INTS11, MIB2, MMP23B, MRPL20, MXRA8, NADK, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, VWA1	0	0	1	0	0	1
ARL5A, CACNB4, NEB	0	0	1	0	0	1
CALML6, CFAP74, FAAP20, GABRD, GNB1, MORN1, PEX10, PRKCZ, RER1, SKI, TMEM52	0	0	1	0	0	1
CASR	0	0	1	0	0	1
KCNIP1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	0	0	531	544	63	1138
Paris Brain Institute, Inserm - ICM	2	5	0	0	0	7
Fulgent Genetics, Fulgent Genetics	0	0	5	0	0	5
Mendelics	0	0	0	0	1	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Cell and Molecular Biology Laboratory, University of the Punjab Lahore	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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