Variants studied for Familial infantile myoclonic 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
4	2	137	26	29	198

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
TBC1D24	4	2	136	26	28	196
CCNF, TBC1D24	0	0	0	0	1	1
LOC130058245, TBC1D24	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	136	26	29	191
OMIM	3	0	0	0	0	3
Division of Medical Genetics; Sainte-Justine Hospital	3	0	0	0	0	3
Genetic Services Laboratory, University of Chicago	0	2	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	1	0	0	0	0	1
Department of Clinical Genetics, Medical University of Lodz	0	0	1	0	0	1

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