ClinVar Miner

Variants studied for autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Included ClinVar conditions (3):
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
42 61 168 24 27 15 313

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
UMOD 39 58 163 24 26 10 297
MUC1 2 3 3 0 1 1 10
​intergenic 0 0 0 0 0 4 4
HNF1B 1 0 0 0 0 0 1
IGF2BP2 0 0 1 0 0 0 1
SEC63 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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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 17 0 0 0 0 0 17
GeneReviews 0 0 0 0 0 14 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 5 4 0 0 0 11
MVZ Medizinische Genetik Mainz 0 8 3 0 0 0 11
Sydney Genome Diagnostics, Children's Hospital Westmead 1 4 5 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 4 0 0 0 7
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
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
Genome-Nilou Lab 0 0 0 0 3 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 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
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
Laboratorio Biología Molecular, Sanatorio Americano 0 1 0 0 0 0 1

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