ClinVar Miner

Variants in gene PKHD1

Minimum submission review status: Collection method:
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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
184 286 866 346 152 1 5 1527

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Autosomal recessive polycystic kidney disease 148 250 494 222 119 0 5 1050
not provided 71 37 486 91 21 0 0 685
not specified 0 0 16 68 93 0 0 159
Polycystic kidney disease 0 5 1 2 1 0 0 9
Polycystic liver disease 0 8 0 0 0 0 0 8
Polycystic kidney dysplasia 4 0 0 0 0 0 0 4
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 dysplasia; Oligohydramnios; Periportal fibrosis 1 0 1 0 0 0 0 2
Polycystic kidney dysplasia; 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
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: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Invitae 84 29 119 257 108 0 0 597
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 15 168 105 21 3 0 0 312
PreventionGenetics,PreventionGenetics 0 0 0 38 67 0 0 105
Integrated Genetics/Laboratory Corporation of America 16 16 23 12 22 0 0 89
Baylor Genetics 52 29 0 0 0 0 0 81
Blueprint Genetics 9 18 18 0 0 0 0 45
Department of Pathology and Laboratory Medicine,Sinai Health System 2 2 4 2 22 0 0 32
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
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
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
Natera Inc 0 5 1 2 1 0 0 9
Yale Center for Mendelian Genomics,Yale University 0 8 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 0 1 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
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 1 2 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
Genetic Services Laboratory, University of Chicago 0 0 2 1 0 0 0 3
Ambry Genetics 0 0 3 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 1 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 0 3
Institute of Human Genetics,Cologne University 0 1 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 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: 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
Division of Genomic Diagnostics,The 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 Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 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
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
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
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1

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