ClinVar Miner

Variants studied for Polycystic kidney disease 4

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
203 599 705 106 51 1582

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKHD1 194 568 677 102 50 1515
LOC126859690, PKHD1 8 31 28 4 1 66
SHOC2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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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
Myriad Genetics, Inc. 1 116 2 0 0 119
Revvity Omics, Revvity 16 24 35 0 0 75
Genome-Nilou Lab 2 2 30 12 21 67
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 32 11 21 0 0 64
Pars Genome Lab 0 0 3 7 47 57
Neuberg Centre For Genomic Medicine, NCGM 5 4 21 0 0 30
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 3 8 0 1 16
MVZ Medizinische Genetik Mainz 5 2 8 0 0 15
Juno Genomics, Hangzhou Juno Genomics, Inc 8 2 4 0 0 14
3billion, Medical Genetics 4 7 3 0 0 14
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
MGZ Medical Genetics Center 3 1 3 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 5 0 2 0 0 7
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 1 3 1 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 4 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 0 0 0 4
Institute 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 0 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 0 4 0 0 0 4
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 3 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 0 3 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 3
Institute of Human Genetics, Cologne University 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
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 2
Precision Medicine Center, Zhengzhou University 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 2 0 0 0 0 2
Mendelics 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 1
Suma Genomics 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 1
Centre for Molecular Medicine & Biobanking, University of Malta 0 1 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 1
Laboratorio Biología Molecular, Sanatorio Americano 0 1 0 0 0 1
Inheritance Genetic Center 0 1 0 0 0 1

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