ClinVar Miner

Variants studied for familial juvenile hyperuricemic nephropathy

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
45 46 91 26 44 15 249

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
UMOD 35 38 64 18 26 10 176
REN 2 0 16 6 13 0 36
LOC107548112, REN 2 3 2 1 4 0 11
MUC1 2 3 3 0 1 1 10
SEC61A1 3 1 4 0 0 0 8
​intergenic 0 0 0 0 0 4 4
HNF1B 1 1 0 0 0 0 2
RUVBL1, SEC61A1 0 0 1 1 0 0 2
ABCG5 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 28 12 40 0 80
Fulgent Genetics, Fulgent Genetics 8 6 23 15 2 0 54
OMIM 21 0 0 0 0 0 21
GeneReviews 0 0 0 0 0 14 14
MVZ Medizinische Genetik Mainz 0 8 6 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 6 5 0 0 0 13
Revvity Omics, Revvity 0 1 6 0 0 0 7
3billion 1 6 0 0 0 0 7
Institute of Human Genetics, Cologne University 1 3 2 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 6 0 0 0 6
Genomics England Pilot Project, Genomics England 6 0 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 3 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Mendelics 2 1 1 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 4 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 2 2 0 0 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 3 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 1 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 0 3 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Athena Diagnostics 0 0 0 0 2 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Precision Medicine Center, Zhengzhou University 0 2 0 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 2
Institute Of Nephrology, Zhong Da Hospital, Southeast University School Of Medicine 2 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1

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