ClinVar Miner

Variants studied for Autosomal recessive polycystic kidney disease

Coded as:
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 not provided total
552 447 889 2474 181 5 4099

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKHD1 523 426 854 2378 174 5 3933
LOC126859690, PKHD1 23 19 33 96 7 0 156
PKD1 2 1 2 0 0 0 5
CYS1 1 0 0 0 0 0 1
DYNC2H1 1 0 0 0 0 0 1
EFHC1, IL17A, IL17F, MCM3, MIR133B, MIR206, PAQR8, PKHD1, TRAM2 1 0 0 0 0 0 1
LOC101927082, PKHD1 0 1 0 0 0 0 1
PKD2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 511 184 426 2398 149 0 3668
Natera, Inc. 54 33 265 154 99 0 605
Illumina Laboratory Services, Illumina 7 3 283 32 44 0 369
Counsyl 10 166 103 21 3 0 303
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 56 51 0 0 0 0 107
Baylor Genetics 45 28 0 0 0 0 73
Molecular Biology Laboratory, Fundació Puigvert 12 15 0 0 0 0 27
Fulgent Genetics, Fulgent Genetics 3 3 13 0 0 0 19
Laboratory of Molecular Genetics, Children's Memorial Health Institute 7 12 0 0 0 0 19
Mendelics 5 4 2 1 4 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 3 1 0 0 0 12
OMIM 9 0 0 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 6 1 0 0 0 9
Sydney Genome Diagnostics, Children's Hospital Westmead 3 4 2 0 0 0 9
SIB Swiss Institute of Bioinformatics 0 0 2 1 5 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 2 4 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 2 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 4 0 6
Myriad Genetics, Inc. 6 0 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 2 0 0 0 5
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 4 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 3 1 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 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 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Medical Genetics, Spectrum Health 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Savige Laboratory, The University of Melbourne 1 0 0 0 0 0 1

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