ClinVar Miner

Variants in gene PKHD1

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Gene type:
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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
277 355 990 659 153 1 5 2024

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Autosomal recessive polycystic kidney disease 236 318 634 572 121 0 5 1609
not provided 72 38 491 91 21 0 0 691
not specified 0 0 30 70 95 0 0 175
Polycystic kidney disease 11 9 11 17 30 0 0 77
Polycystic kidney disease 4 17 6 12 3 0 0 0 37
Polycystic liver disease 0 8 0 0 0 0 0 8
Inborn genetic diseases 0 0 3 0 0 0 0 3
Abnormality of the intrahepatic bile duct 2 0 0 0 0 0 0 2
Polycystic kidney disease; Oligohydramnios; Periportal fibrosis 1 0 1 0 0 0 0 2
Polycystic kidney disease; Renal cyst; Ventricular hypertrophy 2 0 0 0 0 0 0 2
Classic homocystinuria 0 1 0 0 0 0 0 1
Colorectal cancer, protection against 0 0 0 0 0 1 0 1
Hereditary Disorder 0 0 1 0 0 0 0 1
Malignant tumor of colon 1 0 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 1
See cases 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Invitae 176 63 195 557 108 0 0 1099
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 54 6 439 25 70 0 0 594
Illumina Clinical Services Laboratory,Illumina 7 3 283 32 44 0 0 369
Counsyl 10 167 105 21 3 0 0 306
Natera, Inc. 5 9 136 51 8 0 0 209
Integrated Genetics/Laboratory Corporation of America 30 31 38 17 30 0 0 146
PreventionGenetics, PreventionGenetics 0 0 0 38 67 0 0 105
Baylor Genetics 56 30 9 0 0 0 0 94
Department of Pathology and Laboratory Medicine,Sinai Health System 9 5 21 17 31 0 0 83
Blueprint Genetics 9 18 18 0 0 0 0 45
GeneDx 12 8 6 3 0 0 0 29
Fulgent Genetics,Fulgent Genetics 6 3 20 0 0 0 0 29
CeGaT Praxis fuer Humangenetik Tuebingen 7 2 16 2 0 0 0 27
Molecular Biology Laboratory, Fundació Puigvert 12 15 0 0 0 0 0 27
Laboratory of Molecular Genetics,Children's Memorial Health Institute 7 12 0 0 0 0 0 19
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 11 5 1 0 0 0 0 17
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 5 0 4 5 3 0 0 17
Mendelics 5 4 2 1 4 0 0 16
Gharavi Laboratory,Columbia University 2 3 8 0 0 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 3 2 0 0 0 0 11
OMIM 9 0 0 0 0 1 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 6 1 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 0 0 3 1 5 0 0 9
Yale Center for Mendelian Genomics,Yale University 0 8 0 0 0 0 0 8
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 3 2 3 0 0 0 0 8
Sydney Genome Diagnostics,Children's Hospital Westmead 2 4 2 0 0 0 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 2 4 0 0 7
Institute of Human Genetics, Klinikum rechts der Isar 5 2 0 0 0 0 0 7
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 0 0 1 2 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 4 0 0 6
Myriad Women's Health, Inc. 6 0 0 0 0 0 0 6
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 5 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 4 0 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 1 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 2 1 0 0 0 3
Ambry Genetics 0 0 3 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 0 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 0 0 0 3
Pars Genome Lab 0 0 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 2 0 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 0 1 1 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 1 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 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
Lineagen, Inc 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
CHLA 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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Medical Genetics,Spectrum Health 0 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 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 Fourth Hospital 1 0 0 0 0 0 0 1

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