ClinVar Miner

Variants studied for Autosomal recessive polycystic kidney disease

Coded as:
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 not provided total
628 894 1404 2583 182 5 5151

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 595 851 1339 2485 175 5 4930
LOC126859690, PKHD1 27 41 63 98 7 0 211
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: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 552 199 473 2505 151 0 3880
Natera, Inc. 149 654 830 167 99 0 1899
Illumina Laboratory Services, Illumina 7 3 259 31 44 0 344
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 80 71 0 0 0 0 151
Baylor Genetics 45 28 0 0 0 0 73
Counsyl 1 14 0 10 2 0 27
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
Department of Pathology and Laboratory Medicine, Sinai Health System 5 1 2 2 6 0 16
Mendelics 5 4 2 1 4 0 16
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 6 1 0 0 0 9
OMIM 9 0 0 0 0 0 9
Sydney Genome Diagnostics, Children's Hospital Westmead 3 4 2 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 1 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 2 0 0 0 7
Institute of Human Genetics Munich, TUM University Hospital 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 1 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 2 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 3
Otogenetics 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 2 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 2 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 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 0 1 0 0 2
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 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
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Medical Genetics, Spectrum Health 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Savige Laboratory, The University of Melbourne 1 0 0 0 0 0 1

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