ClinVar Miner

Variants studied for Polycystic kidney disease 4

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 total
231 740 847 137 66 1862

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 total
PKHD1 219 701 809 130 64 1775
LOC126859690, PKHD1 10 39 38 7 2 85
POT1 1 0 0 0 0 1
SHOC2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 71 206 566 88 3 934
Baylor Genetics 139 283 16 0 0 438
Counsyl 9 152 103 11 1 276
Myriad Genetics, Inc. 3 123 2 0 0 128
Department of Pathology and Laboratory Medicine, Sinai Health System 12 14 56 22 14 118
Revvity Omics, Revvity 22 33 38 0 0 93
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 41 17 21 0 0 79
Genome-Nilou Lab 2 2 30 12 21 67
Pars Genome Lab 0 0 3 7 47 57
Neuberg Centre For Genomic Medicine, NCGM 5 6 23 0 0 34
3billion 10 10 10 0 0 30
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 4 13 0 2 23
Juno Genomics, Hangzhou Juno Genomics, Inc 13 3 6 0 0 22
MVZ Medizinische Genetik Mainz 5 3 9 0 0 17
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 5 1 0 0 13
Daryl Scott Lab, Baylor College of Medicine 7 4 1 0 0 12
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 2 8 0 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 1 3 0 0 10
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 2 6 0 0 0 8
Dubai Health Genomic Medicine Center, Dubai Health 2 1 3 1 0 7
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 5 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 5 0 2 0 0 7
MGZ Medical Genetics Center 3 1 3 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 2 0 0 6
Lifecell International Pvt. Ltd 3 3 0 0 0 6
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 2 2 2 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 4 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 4 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 0 0 0 4
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 4 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 1 0 0 4
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 3 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 0 4 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 3 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 2 0 0 0 0 2
Department of Precision Medicine, Korea National Institute of Health 1 1 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 2
MVZ Martinsried, Medicover Genetics 1 0 1 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 2
OLLIN Analises Genomicas, OLLIN 2 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 0 0 2 0 0 2
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Centre for Molecular Medicine & Biobanking, University of Malta 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 1
Inheritance Genetic Center 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 0 0 1
Laboratorio Biología Molecular, Sanatorio Americano 0 1 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1

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