ClinVar Miner

Variants in gene PKD1

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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 other not provided total
1489 685 3177 1069 338 4 11 6027

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Polycystic kidney disease, adult type 1126 453 1868 400 188 4 8 3828
not provided 396 222 929 365 199 0 3 1953
PKD1-related disorder 127 40 272 357 46 0 0 842
Inborn genetic diseases 46 7 590 104 0 0 0 747
Polycystic kidney disease 119 21 145 164 103 0 0 552
not specified 13 0 137 131 188 0 0 441
Autosomal dominant polycystic kidney disease 80 43 41 28 71 0 0 260
Polycystic kidney disease 3 with or without polycystic liver disease 1 4 1 0 0 0 0 6
Autosomal recessive polycystic kidney disease 2 1 2 0 0 0 0 5
Bile duct cancer 0 0 1 2 1 0 0 4
See cases 1 1 2 0 0 0 0 4
Chronic kidney disease 0 0 2 0 0 0 0 2
Clubfoot; Polycystic kidney disease; Narrow chest; Hyperechogenic kidneys 0 0 2 0 0 0 0 2
Polycystic kidney disease 2 0 0 2 0 0 0 0 2
Polycystic kidney disease, adult (ADPKD) 0 2 0 0 0 0 0 2
Polycystic kidney disease; Hypertensive disorder 1 1 0 0 0 0 0 2
Polycystic liver disease 1 2 0 0 0 0 0 0 2
Renal cyst 2 0 0 0 0 0 0 2
46,XY disorder of sex development 0 0 1 0 0 0 0 1
Bladder exstrophy-epispadias-cloacal extrophy complex 0 0 1 0 0 0 0 1
Congenital aneurysm of ascending aorta 0 0 1 0 0 0 0 1
Elevated circulating creatine kinase concentration; Polycystic kidney disease; Achilles tendon contracture; Lower limb amyotrophy; Lower limb muscle weakness 0 1 0 0 0 0 0 1
Enlarged kidney; Hyperechogenic kidneys; Multiple renal cysts; Anhydramnios 0 1 0 0 0 0 0 1
Hepatic cysts; Pancreatic cysts; Multiple renal cysts 0 1 0 0 0 0 0 1
Multiple renal cysts; Anhydramnios 0 0 1 0 0 0 0 1
Multiple renal cysts; Hypertensive disorder 1 0 0 0 0 0 0 1
Polycystic kidney disease, adult type; Autosomal dominant polycystic kidney disease 1 0 0 0 0 0 0 1
Polycystic kidney disease; Abnormality of the kidney; Multicystic kidney dysplasia 0 1 0 0 0 0 0 1
Polycystic kidney disease; Hemangioma; Enlarged kidney 0 1 0 0 0 0 0 1
Polycystic kidney disease; Moderate sensorineural hearing impairment; 3-4 toe syndactyly 0 1 0 0 0 0 0 1
Polycystic kidney disease; Renal insufficiency 0 1 0 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney disease 1 0 0 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia; Cystic renal dysplasia 1 0 0 0 0 0 0 1
Proteinuria; Renal cyst 0 0 1 0 0 0 0 1
Renal cyst; Hepatic cysts; Pancreatic cysts; Renovascular hypertension; Hypertensive disorder 0 1 0 0 0 0 0 1
Renal insufficiency 0 1 0 0 0 0 0 1
Seizure; Hemivertebrae; Polycystic kidney disease; Atrial septal defect, ostium secundum type; Missing ribs; Dry skin; Abnormal nail morphology; Abnormal cortical gyration; Hyperechogenic kidneys; Periventricular heterotopia; Plantar crease between first and second toes; Overlapping fingers 0 0 1 0 0 0 0 1
Stage 5 chronic kidney disease; Hepatic cysts; Dilatation of the cerebral artery 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 138
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Fulgent Genetics, Fulgent Genetics 468 219 1089 192 16 0 0 1984
Department of Pathology and Laboratory Medicine, Sinai Health System 274 35 548 351 137 0 0 1345
GeneDx 210 78 613 104 90 0 0 1095
PreventionGenetics, part of Exact Sciences 127 41 272 418 127 0 0 985
Ambry Genetics 46 7 590 104 0 0 0 747
Athena Diagnostics 110 29 183 53 165 0 0 540
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 55 20 97 85 179 0 0 436
CeGaT Center for Human Genetics Tuebingen 47 19 66 179 44 0 0 355
Juno Genomics, Hangzhou Juno Genomics, Inc 177 32 80 0 0 0 0 289
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 134 27 92 6 0 0 0 259
MVZ Medizinische Genetik Mainz 111 10 98 0 0 0 0 219
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 33 37 42 22 66 0 0 199
Breakthrough Genomics, Breakthrough Genomics 0 0 16 74 90 0 0 180
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 27 7 58 29 4 0 0 125
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 37 28 42 0 0 0 0 107
Cavalleri Lab, Royal College of Surgeons in Ireland 62 8 22 0 0 0 0 92
Blueprint Genetics 19 37 35 0 0 0 0 91
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 2 5 65 17 0 0 91
Genome Diagnostics Laboratory, University Medical Center Utrecht 4 0 2 40 40 0 0 86
Gharavi Laboratory, Columbia University 44 23 14 1 0 0 0 82
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 4 63 8 0 0 76
Molecular Biology Laboratory, Fundació Puigvert 46 24 0 0 0 4 0 74
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 32 9 30 0 0 0 0 71
Mayo Clinic Laboratories, Mayo Clinic 12 19 39 0 0 0 0 70
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 25 13 8 0 0 0 4 50
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 11 12 21 2 0 0 0 46
Centre for Mendelian Genomics, University Medical Centre Ljubljana 16 9 19 1 0 0 0 44
Mendelics 17 3 9 4 10 0 0 43
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 1 2 7 30 0 0 43
Molecular Genetics, Royal Melbourne Hospital 18 6 13 1 0 0 0 38
3billion 14 12 11 0 0 0 0 37
Clinical Genetics Laboratory, Skane University Hospital Lund 10 10 9 0 0 0 0 29
Institute of Human Genetics, University of Leipzig Medical Center 12 5 9 1 0 0 0 27
Neuberg Centre For Genomic Medicine, NCGM 3 7 16 0 0 0 0 26
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 17 8 0 0 0 0 0 25
Baylor Genetics 5 2 16 0 0 0 0 23
Genetic Services Laboratory, University of Chicago 1 4 4 7 6 0 0 22
Institute of Human Genetics, Cologne University 7 8 7 0 0 0 0 22
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 4 10 0 0 0 0 19
OMIM 16 0 0 0 0 0 0 16
MGZ Medical Genetics Center 8 1 7 0 0 0 0 16
Revvity Omics, Revvity 3 1 8 0 0 0 0 12
Johns Hopkins Genomics, Johns Hopkins University 1 1 8 1 0 0 0 11
Centre for Molecular Medicine & Biobanking, University of Malta 3 4 4 0 0 0 0 11
Centre for Genetic Disorders, Banaras Hindu University 9 0 0 0 0 0 1 10
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 4 5 0 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 5 0 0 0 0 0 9
Department of Human Genetics, Hannover Medical School 0 6 3 0 0 0 0 9
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 2 3 4 0 0 0 9
Daryl Scott Lab, Baylor College of Medicine 3 0 5 0 0 0 0 8
Eurofins-Biomnis 4 4 0 0 0 0 0 8
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 5 2 0 0 0 0 0 7
Prenatal Diagnosis Center, Inner Mongolia Medical University 7 0 0 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 0 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 2 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 4 0 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 5 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 5 0 0 0 0 6
Eurofins Ntd Llc (ga) 0 0 0 0 5 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 2 0 0 0 0 5
Institute of Human Genetics, University of Wuerzburg 2 2 1 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 0 0 0 0 0 5
Genesis Genoma Lab, Genesis Genoma Lab 0 4 1 0 0 0 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 4 1 0 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 1 0 0 0 3
Department of Plant Molecular and Cellular Biology Adam Mickiewicz University 0 0 0 0 0 0 3 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 2 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 0 0 0 0 3
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 1 1 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 0 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 2 0 0 0 0 3
Molecular Genetics laboratory, Necker Hospital 1 1 1 0 0 0 0 3
New York Genome Center 1 0 2 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Arkana Molecular Diagnostic Laboratory, Arkana Laboratories 2 0 1 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 3 0 0 0 0 0 3
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 2 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 1 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 1 1 0 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 0 1 1 0 0 0 0 2
DASA 2 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 1 1 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 1 0 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 2 0 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 0 2 0 0 0 0 2
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 0 2 0 0 0 0 2
Genetics Department, Catlab 2 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 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 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
North East Yorkshire Genomic Laboratory Hub 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1
Department of Urology, The First Affiliated Hospital of Henan University of Traditional Chinese Medicine 0 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 0 1
Laboratory of Nephrology, Qingdao Municipal Hospital 0 0 1 0 0 0 0 1
Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern 0 0 1 0 0 0 0 1
Department of Urology, Hunan Children's Hospital 1 0 0 0 0 0 0 1
Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine 0 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 0 1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 0 1 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 1 0 0 0 0 1

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