ClinVar Miner

Variants in gene PKD1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
1751 824 3741 1233 345 4 63 7019

Condition and significance breakdown #

Total conditions: 70
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Polycystic kidney disease, adult type 1377 556 1978 403 188 4 8 4231
not provided 448 260 1088 446 199 0 3 2262
Inborn genetic diseases 60 12 920 141 0 0 0 1133
not specified 13 0 429 338 211 0 0 893
PKD1-related disorder 127 40 272 357 46 0 0 842
Polycystic kidney disease 120 21 144 164 103 0 0 552
Autosomal dominant polycystic kidney disease 82 42 40 28 71 0 0 260
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease 19 5 0 0 0 0 0 24
Cystic renal disease 16 5 2 0 0 0 0 23
Renal cyst 12 2 7 0 0 0 0 21
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 11 11
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 9 9
Malignant tumor of esophagus 0 0 0 0 0 0 7 7
See cases 3 1 3 0 0 0 0 7
Gastric cancer 0 0 0 0 0 0 6 6
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
Cervical cancer 0 0 0 0 0 0 5 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 5 5
Bile duct cancer 0 0 1 2 1 0 0 4
Colon adenocarcinoma 0 0 0 0 0 0 4 4
Familial cancer of breast 0 0 0 0 0 0 4 4
Biliary tract abnormality 1 1 1 0 0 0 0 3
Congenital anomaly of kidney and urinary tract 0 0 2 1 0 0 0 3
Kidney failure 0 0 2 1 0 0 0 3
Lung cancer 0 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 0 2 2
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
Hepatocellular carcinoma 0 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 0 2 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
Sarcoma 0 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 0 2 2
46,XY disorder of sex development 0 0 1 0 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 0 1 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 0 1 1
Bladder exstrophy-epispadias-cloacal exstrophy complex 0 0 1 0 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 0 0 0 1 0 0 0 1
Congenital aneurysm of ascending aorta 0 0 1 0 0 0 0 1
Connective tissue disorder 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
Fetal anomalies with a likely genetic cause 0 0 1 0 0 0 0 1
Hepatic cysts; Pancreatic cysts; Multiple renal cysts 0 1 0 0 0 0 0 1
Hereditary ataxia 0 0 1 0 0 0 0 1
Joubert syndrome 10 0 0 1 0 0 0 0 1
Melanoma 0 0 0 0 0 0 1 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
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1
Polycystic kidney disease 2 0 0 1 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
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 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
Thymoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 168
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Fulgent Genetics, Fulgent Genetics 467 218 1089 192 16 0 0 1982
Department of Pathology and Laboratory Medicine, Sinai Health System 274 34 547 351 137 0 0 1343
GeneDx 245 89 719 104 90 0 0 1247
Ambry Genetics 60 12 920 141 0 0 0 1133
PreventionGenetics, part of Exact Sciences 126 41 272 418 127 0 0 984
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 223 43 354 245 76 0 0 941
Athena Diagnostics 113 29 191 59 171 0 0 563
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 55 20 97 85 179 0 0 436
CeGaT Center for Human Genetics Tuebingen 56 23 87 223 44 0 0 433
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 213 37 140 8 0 0 0 398
Juno Genomics, Hangzhou Juno Genomics, Inc 218 39 94 0 0 0 0 351
MVZ Medizinische Genetik Mainz 140 16 131 0 0 0 0 287
Mayo Clinic Laboratories, Mayo Clinic 20 31 62 75 93 0 0 281
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 37 29 42 0 0 0 0 108
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 45 25 14 1 0 0 0 85
MVZ Martinsried, Medicover Genetics 35 11 31 0 0 0 0 77
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 4 63 8 0 0 76
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 21 22 31 2 0 0 0 76
Molecular Biology Laboratory, Fundació Puigvert 46 23 0 0 0 4 0 73
Genetic Services Laboratory, University of Chicago 6 16 34 7 6 0 0 69
3billion 29 18 19 0 0 0 0 66
Laboratory of Genetics, Children's Clinical University Hospital Latvia 23 7 2 21 0 0 0 53
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 52 52
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 25 13 8 0 0 0 4 50
Centre for Mendelian Genomics, University Medical Centre Ljubljana 16 9 19 1 0 0 0 44
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 1 2 7 30 0 0 43
Mendelics 17 3 9 4 10 0 0 43
Medical and Scientific Branch, Hong Kong Genome Institute 29 10 0 0 0 0 0 39
Institute of Human Genetics, University of Leipzig Medical Center 21 6 9 1 0 0 0 37
Molecular Genetics, Royal Melbourne Hospital 18 5 13 1 0 0 0 37
Clinical Genetics Laboratory, Skane University Hospital Lund 15 12 9 0 0 0 0 36
Variantyx, Inc. 18 17 0 0 0 0 0 35
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 11 3 13 2 0 0 0 29
Department of Human Genetics, Hannover Medical School 10 17 2 0 0 0 0 29
Neuberg Centre For Genomic Medicine, NCGM 3 7 17 0 0 0 0 27
(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
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 16 5 3 0 0 0 0 24
Institute of Human Genetics, Cologne University 8 9 7 0 0 0 0 24
Baylor Genetics 5 2 16 0 0 0 0 23
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 4 10 0 0 0 0 19
Johns Hopkins Genomics, Johns Hopkins University 1 2 11 2 0 0 0 16
MGZ Medical Genetics Center 8 1 7 0 0 0 0 16
OMIM 16 0 0 0 0 0 0 16
Revvity Omics, Revvity 4 1 11 0 0 0 0 16
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 2 7 0 0 0 0 14
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 2 5 6 0 0 0 0 13
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
Dasa 7 1 1 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 5 0 0 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
Dubai Health Genomic Medicine Center, Dubai Health 5 2 0 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 0 0 0 0 0 0 7
Prenatal Diagnosis Center, Inner Mongolia Medical University 7 0 0 0 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 4 0 0 0 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 3 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 2 0 0 6
Institute of Immunology and Genetics Kaiserslautern 2 3 1 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 2 1 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
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 4 1 0 0 0 0 0 5
Centre of Medical Genetics, University Hospital Muenster 3 0 2 0 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 2 1 0 0 0 0 5
Eurofins Ntd Llc (ga) 0 0 0 0 5 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
Human Genetics Bochum, Ruhr University Bochum 0 4 1 0 0 0 0 5
Institute of Human Genetics, University of Wuerzburg 2 2 1 0 0 0 0 5
CGC Genetics, Unilabs 0 4 0 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 0 1 3 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 1 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 3 0 0 0 0 4
Genetics Department, Catlab 2 2 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 4 0 0 0 0 0 0 4
OLLIN Analises Genomicas, OLLIN 1 0 3 0 0 0 0 4
Arkana Molecular Diagnostic Laboratory, Arkana Laboratories 2 0 1 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 0 0 0 0 3
Department of Plant Molecular and Cellular Biology Adam Mickiewicz University 0 0 0 0 0 0 3 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Illumina Laboratory Services, Illumina 2 0 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 1 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 2 0 0 0 0 3
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 1 1 0 0 0 3
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 2 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 0 2 0 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 0 1 1 0 0 0 0 2
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 0 2
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 2 0 0 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
Institute of Medical Genetics, Medical University of Vienna 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 Laboratory, Motol Hospital 1 1 0 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 2 0 0 0 0 0 2
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 2 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 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
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 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
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 1 0 0 0 0 1
Clinical Genomics, G42 Labs 1 0 0 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 Clinical Genetics, Aarhus University Hospital 0 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 1
Department of Urology, Hunan Children's Hospital 1 0 0 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
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Genetic and Prenatal Diagnosis Center, Fourth Affiliated Hospital of Jiangsu University 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
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 1 0 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Laboratory of Nephrology, Qingdao Municipal Hospital 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 1 0 0 0 0 1
Medical Genetics and Prenatal Diagnosis Center, Guangxi Academy of Medical Sciences and the People’s Hospital of Guangxi Zhuang Autonomous Region 1 0 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 1
North East and Yorkshire NHS Genomic Laboratory Hub 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
Pars Genome Lab 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
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 0 1 0 0 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 1 0 0 0 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 0 1

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