Variants studied for Isolated focal cortical dysplasia type II

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
18	14	550	35	84	700

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TSC1	3	6	274	33	84	399
TSC2	5	7	262	1	0	275
MTOR	9	1	12	1	0	23
LOC130058210, TSC2	0	0	2	0	0	2
RHEB	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	7	13	383	2	0	405
Illumina Laboratory Services, Illumina	0	0	150	32	84	266
OMIM	9	0	0	0	0	9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	6	0	0	6
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	4	0	0	4
Clinical Genomics Laboratory, Washington University in St. Louis	2	0	1	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	0	2	0	0	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	0	1	0	0	1
Mendelics	0	1	0	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	1	0	0	1
Undiagnosed Diseases Network, NIH	1	0	0	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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