ClinVar Miner

Variants in gene PKD2

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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 total
160 69 350 202 80 778

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal dominant polycystic kidney disease 49 13 205 142 32 438
Polycystic kidney disease 2 91 28 123 32 14 274
not provided 53 31 62 36 56 222
Polycystic kidney disease 40 2 13 8 7 70
PKD2-related condition 17 2 13 19 2 53
Inborn genetic diseases 7 1 19 0 0 27
not specified 3 0 7 4 12 24
Autosomal dominant polycystic liver disease 0 1 1 1 0 3
Autosomal recessive polycystic kidney disease 1 0 0 0 0 1
Enlarged kidney; Hyperechogenic kidneys; Multiple renal cysts; Anhydramnios 0 1 0 0 0 1
Hydrocele testis; Multiple renal cysts 0 0 1 0 0 1
Joubert syndrome 7 0 0 0 0 1 1
Multiple renal cysts; Anhydramnios 0 0 1 0 0 1
Polycystic kidney disease, adult type 0 1 0 0 0 1
Polycystic kidney disease; Elevated systolic blood pressure; Elevated diastolic blood pressure 1 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 10 198 142 30 419
GeneDx 29 8 25 32 27 121
Fulgent Genetics, Fulgent Genetics 39 5 41 15 1 101
Illumina Laboratory Services, Illumina 1 0 62 19 3 85
Department of Pathology and Laboratory Medicine, Sinai Health System 41 2 14 8 7 72
PreventionGenetics, part of Exact Sciences 17 2 13 22 7 61
Athena Diagnostics Inc 27 1 14 0 9 51
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 17 3 11 2 13 46
Ambry Genetics 7 1 19 0 0 27
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 13 6 2 2 3 26
CeGaT Center for Human Genetics Tuebingen 3 3 7 1 9 23
Blueprint Genetics 5 9 4 0 0 18
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 7 3 5 1 0 16
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 15 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 0 4 0 0 15
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 11 3 1 0 0 15
Gharavi Laboratory, Columbia University 10 2 3 0 0 15
Cavalleri Lab, Royal College of Surgeons in Ireland 9 3 1 0 0 13
Eurofins Ntd Llc (ga) 2 1 3 1 4 11
OMIM 9 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 4 0 0 9
Molecular Biology Laboratory, Fundació Puigvert 8 1 0 0 0 9
Genetic Services Laboratory, University of Chicago 3 1 1 1 2 8
Institute of Human Genetics, Cologne University 1 1 5 0 0 7
MGZ Medical Genetics Center 6 1 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 4 0 0 1 2 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 4 1 1 1 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 1 0 0 6
(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 6
3billion 2 3 1 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 0 2 0 0 5
Baylor Genetics 2 0 2 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 1 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 1 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 1 3
Mendelics 0 1 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 2 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 2
Molecular Genetics laboratory, Necker Hospital 0 1 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 0 0 0 1
Centre for Molecular Medicine & Biobanking, University of Malta 0 1 0 0 0 1

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