ClinVar Miner

Variants studied for Autosomal recessive polycystic kidney disease

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
199 298 629 246 121 5 1236

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKHD1 190 296 627 246 121 5 1223
PKD1 5 1 2 0 0 0 8
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
LOC105371049, PKD1 1 0 0 0 0 0 1
PKD2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 120 39 184 179 108 0 630
Illumina Clinical Services Laboratory,Illumina 7 3 283 32 44 0 369
Counsyl 10 167 105 21 3 0 306
Natera, Inc. 5 7 134 50 7 0 203
Baylor Genetics 52 29 0 0 0 0 81
Integrated Genetics/Laboratory Corporation of America 28 30 0 0 0 0 58
Fulgent Genetics,Fulgent Genetics 6 3 20 0 0 0 29
Molecular Biology Laboratory, Fundació Puigvert 12 15 0 0 0 0 27
Laboratory of Molecular Genetics,Children's Memorial Health Institute 7 12 0 0 0 0 19
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 11 5 1 0 0 0 17
Mendelics 5 4 2 1 4 0 16
OMIM 9 0 0 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 6 1 0 0 0 9
SIB Swiss Institute of Bioinformatics 0 0 3 1 5 0 9
Department of Pathology and Laboratory Medicine,Sinai Health System 8 1 0 0 0 0 9
Sydney Genome Diagnostics,Children's Hospital Westmead 3 4 2 0 0 0 9
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 2 4 0 7
Institute of Human Genetics, Klinikum rechts der Isar 5 2 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 1 4 0 6
Myriad Women's Health, Inc. 6 0 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Developmental Genetics Unit,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
Broad Institute Rare Disease Group, Broad Institute 2 0 2 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 1 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
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
DNA and Cytogenetics Diagnostics Unit,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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing 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,VU University Medical Center Amsterdam 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

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