ClinVar Miner

Variants studied for benign urinary system neoplasm

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
44 11 48 17 18 2 122

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 not provided total
FH 43 11 46 17 18 2 119
CHML, CHRM3, EXO1, FH, FMN2, GREM2, KMO, MAP1LC3C, OPN3, PLD5, RGS7, RYR2, WDR64, ZP4 1 0 0 0 0 0 1
PTCH1 0 0 1 0 0 0 1
TSC1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 36 8 10 0 0 0 54
Illumina Clinical Services Laboratory,Illumina 0 0 33 17 18 0 53
OMIM 7 0 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 0 1 3 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 0 1
Institutes of Biomedical Sciences,Shanxi University 1 0 0 0 0 0 1

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