ClinVar Miner

Variants studied for Polycystic kidney disease 4

Coded as:
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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
160 413 275 95 51 954

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 152 387 269 92 50 915
LOC126859690, PKHD1 7 26 6 3 1 38
SHOC2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 124 232 13 0 0 369
Fulgent Genetics, Fulgent Genetics 44 44 154 77 3 322
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
Pars Genome Lab 0 0 3 7 47 57
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 19 9 18 0 0 46
3billion 4 7 3 0 0 14
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 7 0 1 13
Neuberg Centre For Genomic Medicine, NCGM 2 0 7 0 0 9
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 2 0 0 6
Lifecell International Pvt. Ltd 3 3 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 1 0 0 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 3 1 0 5
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 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 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
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
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 1 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
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
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
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

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