ClinVar Miner

Variants in gene PKHD1

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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 protective not provided total
699 1324 2548 2735 313 1 38 6624

Condition and significance breakdown #

Total conditions: 48
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Autosomal recessive polycystic kidney disease 595 851 1339 2485 175 0 5 4930
Polycystic kidney disease 4 219 701 809 130 64 0 0 1775
not provided 114 88 671 236 208 0 0 1219
Inborn genetic diseases 7 1 391 49 0 0 0 448
PKHD1-related disorder 49 28 171 191 8 0 0 447
not specified 0 0 130 82 103 0 0 292
Polycystic kidney disease 12 6 9 16 29 0 0 71
Autosomal dominant polycystic liver disease 7 15 22 10 0 0 0 54
Biliary tract abnormality 4 2 3 0 0 0 0 9
See cases 4 2 2 1 0 0 0 9
Lung cancer 0 0 0 0 0 0 6 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 6 6
Caroli disease 0 2 2 1 0 0 0 5
Autosomal dominant polycystic kidney disease 1 0 2 1 0 0 0 4
Hepatocellular carcinoma 0 0 0 0 0 0 4 4
Renal cyst 1 1 2 0 0 0 0 4
Enlarged kidney; Hyperechogenic kidneys; Multiple renal cysts; Anhydramnios 3 0 0 0 0 0 0 3
Familial cystic renal disease 3 0 0 0 0 0 0 3
Malignant tumor of urinary bladder 0 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 3 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 3 3
Polycystic kidney disease; Hypoplastic aortic arch 1 1 1 0 0 0 0 3
Urogenital tract malformation 3 0 0 0 0 0 0 3
Cystic renal disease 2 0 0 0 0 0 0 2
Familial cancer of breast 0 0 0 0 0 0 2 2
Kidney failure 0 0 2 0 0 0 0 2
Moyamoya disease 0 0 2 0 0 0 0 2
Multiple renal cysts; Anhydramnios 0 0 2 0 0 0 0 2
Polycystic kidney disease, adult type 0 1 1 0 0 0 0 2
Polycystic kidney disease; Oligohydramnios; Periportal fibrosis 1 0 1 0 0 0 0 2
Sarcoma 0 0 0 0 0 0 2 2
Abnormal intrahepatic bile duct morphology 1 0 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 0 1 1
Colon cancer 1 0 0 0 0 0 0 1
Colorectal cancer, protection against 0 0 0 0 0 1 0 1
Enlarged kidney; Hyperechogenic kidneys; Anhydramnios 1 0 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 0 1 1
Hereditary disease 0 0 1 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 0 1 1
Polycystic kidney disease 4, with or without hepatic disease 0 1 0 0 0 0 0 1
Polycystic kidney disease; Renal cyst; Ventricular hypertrophy 1 0 0 0 0 0 0 1
Pregnancy loss, recurrent, susceptibility to, 3 1 0 0 0 0 0 0 1
Prostate cancer 0 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 139
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Labcorp Genetics (formerly Invitae), Labcorp 530 192 448 2416 144 0 0 3730
Natera, Inc. 144 619 794 153 98 0 0 1808
Fulgent Genetics, Fulgent Genetics 69 200 549 86 3 0 0 905
GeneDx 57 51 243 140 201 0 0 692
Eurofins Ntd Llc (ga) 50 6 418 20 68 0 0 562
PreventionGenetics, part of Exact Sciences 49 28 171 221 73 0 0 542
Ambry Genetics 7 1 391 49 0 0 0 448
Baylor Genetics 142 278 16 0 0 0 0 433
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 76 70 130 35 34 0 0 345
Illumina Laboratory Services, Illumina 6 3 255 31 41 0 0 336
Counsyl 10 158 98 20 2 0 0 288
Department of Pathology and Laboratory Medicine, Sinai Health System 22 16 74 37 49 0 0 198
Mayo Clinic Laboratories, Mayo Clinic 10 7 69 35 66 0 0 187
CeGaT Center for Human Genetics Tuebingen 20 5 37 52 12 0 0 126
Myriad Genetics, Inc. 8 116 2 0 0 0 0 126
Revvity Omics, Revvity 19 29 38 0 0 0 0 86
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 47 14 20 0 0 0 0 81
Breakthrough Genomics, Breakthrough Genomics 2 0 12 62 0 0 0 76
Genome-Nilou Lab 2 2 29 11 21 0 0 65
Pars Genome Lab 0 0 3 7 46 0 0 56
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 8 8 24 11 0 0 0 51
Blueprint Genetics 9 18 16 0 0 0 0 43
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 33 33
Neuberg Centre For Genomic Medicine, NCGM 4 7 22 0 0 0 0 33
Genome Diagnostics Laboratory, University Medical Center Utrecht 4 0 1 16 11 0 0 32
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 0 1 18 8 0 0 29
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 8 14 2 2 0 0 28
Molecular Biology Laboratory, Fundació Puigvert 12 15 0 0 0 0 0 27
3billion 10 7 9 0 0 0 0 26
Juno Genomics, Hangzhou Juno Genomics, Inc 13 3 6 0 0 0 0 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 2 12 2 0 0 18
Laboratory of Molecular Genetics, Children's Memorial Health Institute 7 11 0 0 0 0 0 18
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 5 0 4 5 3 0 0 17
Genetic Services Laboratory, University of Chicago 2 1 8 2 3 0 0 16
MVZ Medizinische Genetik Mainz 5 3 8 0 0 0 0 16
Mendelics 5 4 3 0 4 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 2 3 6 0 0 13
Gharavi Laboratory, Columbia University 1 4 8 0 0 0 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 5 1 0 0 0 0 13
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 5 2 5 0 0 0 0 12
Clinical Genetics Laboratory, Skane University Hospital Lund 5 3 4 0 0 0 0 12
Centre of Medical Genetics, University Hospital Muenster 5 3 3 0 0 0 0 11
Dasa 10 1 0 0 0 0 0 11
Daryl Scott Lab, Baylor College of Medicine 5 4 1 0 0 0 0 10
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 2 7 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 1 3 0 0 0 0 10
Yale Center for Mendelian Genomics, Yale University 3 8 0 0 0 0 0 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 6 1 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 3 2 0 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 4 2 0 0 0 0 8
Institute of Human Genetics Munich, TUM University Hospital 4 4 0 0 0 0 0 8
SIB Swiss Institute of Bioinformatics 0 0 2 1 5 0 0 8
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 2 5 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 5 0 2 0 0 0 0 7
MGZ Medical Genetics Center 3 1 3 0 0 0 0 7
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 3 2 2 0 0 0 0 7
OMIM 7 0 0 0 0 1 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 1 0 0 0 0 0 7
Sydney Genome Diagnostics, Children's Hospital Westmead 1 4 2 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 2 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 1 4 1 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 2 0 1 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 1 2 0 0 6
Molecular Genetics laboratory, Necker Hospital 4 0 2 0 0 0 0 6
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 2 2 2 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 0 0 0 0 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 4 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Laboratory of Molecular Diagnosis of Genetic Disease, Università degli Studi di Napoli Federico II 0 2 2 1 0 0 0 5
Lifecell International Pvt. Ltd 3 2 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 5 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 0 0 0 0 0 4
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 4 0 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 1 1 2 0 0 0 0 4
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 3 0 0 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 0 4 0 0 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 1 0 1 0 0 0 4
MVZ Martinsried, Medicover Genetics 2 0 2 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 2 1 0 1 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 3 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 1 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 3 0 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 2 1 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 0 0 0 0 0 3
Otogenetics 3 0 0 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 0 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 1 0 1 0 0 0 0 2
Department of Neurosurgery, The University of Tokyo 0 0 2 0 0 0 0 2
Department of Precision Medicine, Korea National Institute of Health 1 1 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 0 2
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 2 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
Guangxi Clinical Research Center for Birth Defects, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region 0 0 2 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 2 0 0 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 0 0 2 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 0 1
Centre for Molecular Medicine & Biobanking, University of Malta 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 1
Department of Genetic Research, Imam Abdulrahman Bin Faisal University 1 0 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 0 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 1
ISCA Site 6 0 0 0 1 0 0 0 1
Inheritance Genetic Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 0 0 0 0 1
Laboratorio Biología Molecular, Sanatorio Americano 0 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 0 1
Medical Genetics Department, and Science and Technology Unit, Umm-al-Qura University 1 0 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 0 0 1
Medical Genetics, Spectrum Health 0 1 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 1

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