ClinVar Miner

Variants in gene PKHD1

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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 protective not provided total
601 758 1430 2579 310 1 5 4910

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Autosomal recessive polycystic kidney disease 523 426 854 2378 174 0 5 3933
not provided 86 65 556 179 208 0 0 1028
Polycystic kidney disease 4 152 387 269 92 50 0 0 915
PKHD1-related condition 30 18 98 161 8 0 0 315
not specified 0 0 81 68 96 0 0 225
Inborn genetic diseases 2 1 171 21 0 0 0 195
Polycystic kidney disease 11 9 9 16 29 0 0 73
Autosomal dominant polycystic liver disease 7 15 22 10 0 0 0 54
Caroli disease 0 2 2 1 0 0 0 5
See cases 3 0 1 1 0 0 0 5
Autosomal dominant polycystic kidney disease 1 0 2 1 0 0 0 4
Abnormality of the genitourinary system 3 0 0 0 0 0 0 3
Enlarged kidney; Hyperechogenic kidneys; Multiple renal cysts; Anhydramnios 3 0 0 0 0 0 0 3
Kidney disorder 2 0 1 0 0 0 0 3
Polycystic kidney disease; Hypoplastic aortic arch 1 1 1 0 0 0 0 3
Multiple renal cysts; Anhydramnios 0 0 2 0 0 0 0 2
Polycystic kidney disease; Oligohydramnios; Periportal fibrosis 1 0 1 0 0 0 0 2
Abnormal intrahepatic bile duct morphology 1 0 0 0 0 0 0 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
Hereditary disease 0 0 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 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
Renal cyst 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Invitae 490 177 405 2311 142 0 0 3525
Natera, Inc. 53 34 259 141 98 0 0 585
Eurofins Ntd Llc (ga) 50 6 418 20 68 0 0 562
GeneDx 36 35 136 139 201 0 0 547
PreventionGenetics, part of Exact Sciences 30 18 98 191 73 0 0 410
Baylor Genetics 128 228 13 0 0 0 0 366
Illumina Laboratory Services, Illumina 6 3 277 32 41 0 0 359
Fulgent Genetics, Fulgent Genetics 45 46 164 76 3 0 0 334
Counsyl 10 158 98 20 2 0 0 288
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 54 49 82 24 32 0 0 241
Ambry Genetics 2 1 171 21 0 0 0 195
Myriad Genetics, Inc. 6 109 2 0 0 0 0 117
Department of Pathology and Laboratory Medicine, Sinai Health System 9 4 20 16 30 0 0 79
CeGaT Center for Human Genetics Tuebingen 12 3 24 27 9 0 0 75
Revvity Omics, Revvity 14 22 35 0 0 0 0 71
Genome-Nilou Lab 2 2 29 11 21 0 0 65
Pars Genome Lab 0 0 3 7 46 0 0 56
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 27 10 17 0 0 0 0 54
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
Mayo Clinic Laboratories, Mayo Clinic 6 5 30 0 0 0 0 41
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
Molecular Biology Laboratory, Fundació Puigvert 12 15 0 0 0 0 0 27
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
Mendelics 5 4 3 0 4 0 0 16
Genetic Services Laboratory, University of Chicago 1 1 7 2 3 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 2 3 6 0 0 13
3billion 4 6 3 0 0 0 0 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 9 0 1 0 0 13
Gharavi Laboratory, Columbia University 2 2 8 0 0 0 0 12
Yale Center for Mendelian Genomics, Yale University 3 8 0 0 0 0 0 10
Institute of Human Genetics, University Hospital Muenster 5 2 3 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
Neuberg Centre For Genomic Medicine, NCGM 2 0 7 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 0 0 2 1 5 0 0 8
OMIM 7 0 0 0 0 1 0 7
MGZ Medical Genetics Center 3 1 3 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 5 0 2 0 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 2 1 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
Sydney Genome Diagnostics, Children's Hospital Westmead 1 4 2 0 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 1 2 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 2 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 2 0 1 0 0 6
Molecular Genetics laboratory, Necker Hospital 4 0 2 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 2 0 0 0 0 5
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 5 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Lifecell International Pvt. Ltd 3 2 0 0 0 0 0 5
Laboratory of Molecular Diagnosis of Genetic Disease, Università degli Studi di Napoli Federico II 0 2 2 1 0 0 0 5
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 4 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 4 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 0 0 0 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 0 4 0 0 0 0 0 4
Institute of Human Genetics, Cologne University 0 2 1 0 0 0 0 3
Hadassah Hebrew University Medical Center 3 0 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 2 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 3 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 1 0 0 0 0 0 3
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
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 0 1 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 0 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 2 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
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
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
ISCA Site 6 0 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 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
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 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
Center for Personalized Medicine, Children's Hospital Los Angeles 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
Genomic Medicine Lab, University of California San Francisco 1 0 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
Department of Genetic Research, Imam Abdulrahman Bin Faisal University 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 1
Medical Genetics, Spectrum Health 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
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
Centre for Molecular Medicine & Biobanking, University of Malta 0 1 0 0 0 0 0 1

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