ClinVar Miner

Variants studied for autosomal recessive polycystic kidney disease

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
629 812 1039 2489 201 5 4589

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKHD1 593 769 996 2392 190 5 4389
LOC126859690, PKHD1 25 38 38 96 7 0 174
DZIP1L 4 3 3 1 4 0 15
PKD1 2 1 2 0 0 0 5
CYS1 1 0 0 0 0 0 1
DYNC2H1 1 0 0 0 0 0 1
EFHC1, IL17A, IL17F, MCM3, MIR133B, MIR206, PAQR8, PKHD1, TRAM2 1 0 0 0 0 0 1
LOC101927082, PKHD1 0 1 0 0 0 0 1
PKD2 1 0 0 0 0 0 1
SHOC2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 521 187 426 2398 149 0 3681
Natera, Inc. 54 33 265 154 99 0 605
Baylor Genetics 146 294 16 0 0 0 453
Illumina Laboratory Services, Illumina 7 3 283 32 44 0 369
Fulgent Genetics, Fulgent Genetics 46 47 168 78 3 0 342
Counsyl 10 166 103 21 3 0 303
Myriad Genetics, Inc. 7 116 2 0 0 0 125
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 59 52 0 0 0 0 111
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 39 14 23 0 0 0 76
Revvity Omics, Revvity 16 24 35 0 0 0 75
Genome-Nilou Lab 2 2 30 12 25 0 71
Pars Genome Lab 0 0 3 7 47 0 57
Molecular Biology Laboratory, Fundació Puigvert 12 15 0 0 0 0 27
Neuberg Centre For Genomic Medicine, NCGM 5 2 16 0 0 0 23
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 8 10 0 1 0 21
Laboratory of Molecular Genetics, Children's Memorial Health Institute 7 12 0 0 0 0 19
Mendelics 6 4 2 1 4 0 17
3billion 5 7 3 0 0 0 15
MVZ Medizinische Genetik Mainz 5 2 8 0 0 0 15
Juno Genomics, Hangzhou Juno Genomics, Inc 8 2 4 0 0 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 5 1 0 0 0 14
OMIM 13 0 0 0 0 0 13
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 6 1 0 0 0 9
SIB Swiss Institute of Bioinformatics 1 0 2 1 5 0 9
Sydney Genome Diagnostics, Children's Hospital Westmead 3 4 2 0 0 0 9
MGZ Medical Genetics Center 3 1 3 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 2 4 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 2 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 5 0 2 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 2 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 4 0 6
Lifecell International Pvt. Ltd 3 3 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 2 0 0 0 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 3 1 0 0 5
Institute of Human Genetics, Cologne University 0 3 1 0 0 0 4
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 4 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 3 1 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 1 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 4 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 0 0 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 0 4 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 3 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 2 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 3 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 1 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 0 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 2
Precision Medicine Center, Zhengzhou University 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 2 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Medical Genetics, Spectrum Health 0 1 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Savige Laboratory, The University of Melbourne 1 0 0 0 0 0 1
Centre for Molecular Medicine & Biobanking, University of Malta 0 1 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 0 1 0 0 0 1

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