Variants studied for urinary bladder neoplasm

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	other	not provided	total
178	287	130	16	1	23	33	654

Gene and significance breakdown #

Total genes and gene combinations: 43

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	other	not provided	total
TP53	11	119	0	0	0	0	0	126
RB1	11	4	102	1	0	0	0	118
TSC1	7	0	2	0	0	0	33	42
FGFR3	15	7	12	5	1	0	0	37
PIK3CA	1	32	0	0	0	0	0	33
HRAS, LRRC56	7	13	7	4	0	0	0	26
MRE11	0	0	0	0	0	23	0	23
CTNNB1, LOC126806658	2	21	0	0	0	0	0	22
ARID1A	20	0	1	0	0	0	0	21
BRCA2	20	0	0	0	0	0	0	20
KRAS	5	1	4	6	0	0	0	16
ERBB2	5	10	0	0	0	0	0	15
ATM	12	0	0	0	0	0	0	12
BRAF	0	11	0	0	0	0	0	11
NF1	11	0	0	0	0	0	0	11
ATM, C11orf65	10	0	0	0	0	0	0	10
FBXW7	0	10	0	0	0	0	0	10
KDM6A	9	0	0	0	0	0	0	9
BRCA1	8	0	0	0	0	0	0	8
ERBB3	4	5	0	0	0	0	0	8
NFE2L2	0	8	0	0	0	0	0	8
NRAS	0	8	0	0	0	0	0	8
CDKN2A	2	5	0	0	0	0	0	7
EGFR	6	0	0	0	0	0	0	6
IDH1	0	5	0	0	0	0	0	5
PTEN	3	1	1	0	0	0	0	5
CREBBP	0	4	0	0	0	0	0	4
ERCC2	4	0	0	0	0	0	0	4
MAP2K1	0	3	0	0	0	0	0	3
SF3B1	0	3	0	0	0	0	0	3
BRCA1, LOC126862571	2	0	0	0	0	0	0	2
CDKN1A	1	0	1	0	0	0	0	2
CNOT9	0	2	0	0	0	0	0	2
EP300	0	2	0	0	0	0	0	2
FGFR1	0	2	0	0	0	0	0	2
LOC110806263, TERT	2	0	0	0	0	0	0	2
MTOR	0	2	0	0	0	0	0	2
RHEB	0	2	0	0	0	0	0	2
RXRA	0	2	0	0	0	0	0	2
U2AF1	0	2	0	0	0	0	0	2
AKT1	0	1	0	0	0	0	0	1
CTNNA3	0	1	0	0	0	0	0	1
MAPK1	0	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	other	not provided	total
Database of Curated Mutations (DoCM)	0	280	0	0	0	0	0	280
Laboratory of Urology, Hospital Clinic de Barcelona	150	0	6	0	0	0	0	156
Baylor Genetics	1	2	96	0	0	0	0	99
Fulgent Genetics, Fulgent Genetics	18	0	27	16	1	0	0	62
Tuberous sclerosis database (TSC1)	0	0	0	0	0	0	33	33
Gray Institute for Radiation Oncology & Biology, University of Oxford	0	0	0	0	0	23	0	23
Juno Genomics, Hangzhou Juno Genomics, Inc	5	2	2	0	0	0	0	9
OMIM	5	0	0	0	0	0	0	5
Mendelics	1	2	0	0	0	0	0	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	2	0	1	0	0	0	0	3
Bioinformatics dept., Datar Cancer Genetics Limited, India	1	0	0	0	0	0	0	1
Genomic Center, National Cancer Institute	0	1	0	0	0	0	0	1

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