Variants studied for lung PEComa

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	not provided	total
58	12	191	192	7	45	498

Gene and significance breakdown #

Total genes and gene combinations: 5

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TSC2	43	10	144	152	4	39	386
TSC1	15	2	44	40	3	6	109
LOC130058210, TSC2	0	0	1	0	0	0	1
NTHL1, TSC2	0	0	1	0	0	0	1
PKD1, TSC2	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	22	7	161	187	6	0	383
Tuberous sclerosis database (TSC2)	0	0	0	0	0	39	39
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	10	4	18	4	0	0	36
Centre for Mendelian Genomics, University Medical Centre Ljubljana	12	1	8	1	1	0	23
Juno Genomics, Hangzhou Juno Genomics, Inc	13	0	1	0	0	0	14
Mendelics	7	0	0	0	0	0	7
Tuberous sclerosis database (TSC1)	0	0	0	0	0	6	6
OMIM	3	0	0	0	0	0	3
Baylor Genetics	2	0	1	0	0	0	3
3billion	0	0	0	2	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Molecular Genetics Lab, CHRU Brest	0	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	0	0	1	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.