ClinVar Miner

Variants in gene PKD2

See also:
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
267 111 523 246 67 1 1106

Condition and significance breakdown #

Total conditions: 16
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Polycystic kidney disease 2 194 72 252 44 15 1 551
Autosomal dominant polycystic kidney disease 62 14 253 179 37 0 541
not provided 65 36 89 40 44 0 255
PKD2-related disorder 33 2 20 20 2 0 77
Polycystic kidney disease 40 2 13 8 7 0 70
Inborn genetic diseases 10 1 53 1 0 0 65
not specified 3 0 18 6 12 0 37
Autosomal dominant polycystic liver disease 0 1 1 1 0 0 3
Autosomal recessive polycystic kidney disease 1 0 0 0 0 0 1
Enlarged kidney; Hyperechogenic kidneys; Multiple renal cysts; Anhydramnios 0 1 0 0 0 0 1
Hydrocele testis; Multiple renal cysts 0 0 1 0 0 0 1
Joubert syndrome 7 0 0 0 0 1 0 1
Multiple renal cysts; Anhydramnios 0 0 1 0 0 0 1
Polycystic kidney disease, adult type 0 1 0 0 0 0 1
Polycystic kidney disease; Elevated systolic blood pressure; Elevated diastolic blood pressure 1 0 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 82
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 46 10 243 178 31 0 508
Fulgent Genetics, Fulgent Genetics 84 34 126 17 1 0 262
GeneDx 41 13 48 32 27 0 161
Department of Pathology and Laboratory Medicine, Sinai Health System 74 6 43 18 12 0 153
PreventionGenetics, part of Exact Sciences 33 2 20 23 7 0 85
Illumina Laboratory Services, Illumina 1 0 62 19 3 0 85
Ambry Genetics 10 1 53 1 0 0 65
Athena Diagnostics 27 2 14 0 9 0 52
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 17 3 11 2 13 0 46
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 27 3 12 0 0 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 3 12 3 0 0 36
CeGaT Center for Human Genetics Tuebingen 7 3 10 2 9 0 31
Juno Genomics, Hangzhou Juno Genomics, Inc 21 4 6 0 0 0 31
MVZ Medizinische Genetik Mainz 21 0 7 0 0 0 28
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 13 6 2 2 3 0 26
Breakthrough Genomics, Breakthrough Genomics 0 0 3 9 8 0 20
Blueprint Genetics 5 9 4 0 0 0 18
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 7 3 5 1 0 0 16
Gharavi Laboratory, Columbia University 11 2 3 0 0 0 16
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 11 3 1 0 0 0 15
Cavalleri Lab, Royal College of Surgeons in Ireland 9 3 1 0 0 0 13
Eurofins Ntd Llc (ga) 2 1 3 1 4 0 11
3billion 4 4 3 0 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 6 1 3 0 0 0 10
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 2 3 0 0 0 10
OMIM 9 0 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 4 0 0 0 9
Molecular Biology Laboratory, Fundació Puigvert 8 1 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 3 1 1 1 2 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 4 0 0 0 8
Institute of Human Genetics, Cologne University 1 1 5 0 0 0 7
MGZ Medical Genetics Center 6 1 0 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 4 0 0 1 2 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 4 1 1 1 0 0 7
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 4 2 0 0 0 0 6
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 2 2 0 0 0 5
Baylor Genetics 2 0 2 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 1 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 3
Department of Human Genetics, Hannover Medical School 2 1 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 0 0 0 0 0 2
Mendelics 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 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
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 0 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Genome-Nilou Lab 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.