ClinVar Miner

Variants studied for autosomal recessive polycystic kidney disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
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
251 325 643 574 121 5 1636

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKHD1 241 322 641 574 121 5 1621
PKD1 3 1 2 0 0 0 6
DZIP1L 4 1 0 0 0 0 5
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: 50
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 176 64 195 510 108 0 1053
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 56 31 9 0 0 0 95
Integrated Genetics/Laboratory Corporation of America 30 31 0 0 0 0 61
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 13 0 0 0 0 0 13
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
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
Department of Pathology and Laboratory Medicine,Sinai Health System 4 1 0 0 0 0 5
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 4 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 1 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 2 0 2 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 0 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 2 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 0 0 3
Pars Genome Lab 0 0 1 2 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 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
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 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
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
Nilou-Genome Lab 0 0 0 1 0 0 1
Medical Genetics Lab, Xi'an Fourth Hospital 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.