ClinVar Miner

Variants studied for Polycystic kidney disease 2

Coded as:
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
247 78 312 49 21 2 675

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKD2 194 72 252 44 15 1 551
LOC129992813, PKD2 52 6 58 5 6 1 121
FAM13A, PKD2 1 0 0 0 0 0 1
MIR6511B1, PKD1 0 0 1 0 0 0 1
PKD1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 103 35 161 20 1 0 320
Illumina Laboratory Services, Illumina 1 0 78 19 7 0 105
Department of Pathology and Laboratory Medicine, Sinai Health System 39 3 31 12 1 0 86
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 33 3 12 0 0 0 48
MVZ Medizinische Genetik Mainz 30 0 7 0 0 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 12 2 4 1 14 0 33
Juno Genomics, Hangzhou Juno Genomics, Inc 23 4 6 0 0 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 3 0 0 0 0 23
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 11 3 1 0 0 0 15
Cavalleri Lab, Royal College of Surgeons in Ireland 11 3 1 0 0 0 15
OMIM 11 0 0 0 0 0 11
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 6 2 3 0 0 0 11
3billion 4 4 3 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 1 4 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 4 0 0 0 9
MGZ Medical Genetics Center 7 1 0 0 0 0 8
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 5 3 0 0 0 0 8
Molecular Biology Laboratory, Fundació Puigvert 8 0 0 0 0 0 8
Institute of Human Genetics, Cologne University 1 1 5 0 0 0 7
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 2 2 0 0 0 5
Department of Human Genetics, Hannover Medical School 2 1 2 0 0 0 5
Baylor Genetics 2 0 2 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 4
Mendelics 0 1 1 0 1 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 2 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 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
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 1
Centre for Molecular Medicine & Biobanking, University of Malta 0 1 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 0 1 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 0 1

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