ClinVar Miner

Variants studied for vesicoureteral reflux

Included ClinVar conditions (13):
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
12 11 156 61 100 2 329

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ROBO2 2 0 73 34 77 0 175
TNXB 4 6 69 13 15 2 108
LOC106780803, TNXB 0 0 5 7 4 0 16
SOX17 2 1 2 6 1 0 11
LOC126806727, ROBO2 0 0 5 1 2 0 8
​intergenic 1 0 1 0 0 0 2
CYP21A2, TNXB 0 0 1 0 1 0 2
AFAP1L2, VWA2 0 1 0 0 0 0 1
C12orf57 1 0 0 0 0 0 1
EBF3 1 0 0 0 0 0 1
KAT6B 0 1 0 0 0 0 1
LOC126859654, TNXB 0 1 0 0 0 0 1
MED13L 1 0 0 0 0 0 1
NIPBL 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 64 21 76 0 161
Fulgent Genetics, Fulgent Genetics 0 0 25 38 13 0 76
Revvity Omics, Revvity 2 7 30 0 0 0 39
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 18 1 0 0 19
Genome-Nilou Lab 0 0 0 0 9 0 9
OMIM 6 0 1 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 5 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 1 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Mendelics 0 0 0 1 1 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Human Genetic Laboratory, University of Liege 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 1

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