ClinVar Miner

Variants studied for Familial juvenile hyperuricemic nephropathy type 1

Coded as:
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
39 56 158 24 26 10 293

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
UMOD 39 56 157 24 26 10 292
IGF2BP2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 11 22 114 17 2 0 166
Illumina Laboratory Services, Illumina 0 0 18 9 25 0 52
OMIM 16 0 0 0 0 0 16
MVZ Medizinische Genetik Mainz 0 8 3 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 5 3 0 0 0 10
GeneReviews 0 0 0 0 0 9 9
3billion, Medical Genetics 1 6 0 0 0 0 7
Revvity Omics, Revvity 0 1 5 0 0 0 6
Genomics England Pilot Project, Genomics England 6 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
Institute of Human Genetics, Cologne University 0 2 2 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 3 0 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Mendelics 1 1 1 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
Yale Center for Mendelian Genomics, Yale University 0 3 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Precision Medicine Center, Zhengzhou University 0 2 0 0 0 0 2
Institute Of Nephrology, Zhong Da Hospital, Southeast University School Of Medicine 2 0 0 0 0 0 2
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
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 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
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Laboratorio Biología Molecular, Sanatorio Americano 0 1 0 0 0 0 1

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