Variants studied for Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2

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
20	9	137	151	3	320

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TSC2	20	9	134	151	3	317
LOC130058210, TSC2	0	0	1	0	0	1
NTHL1, TSC2	0	0	1	0	0	1
PKD1, TSC2	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	16	6	119	149	3	293
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	8	3	17	3	0	31
Molecular Genetics Lab, CHRU Brest	0	0	1	0	0	1

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