ClinVar Miner

Variants studied for cystic kidney disease

Included ClinVar conditions (53):
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 other not provided total
1807 1259 2383 3077 493 4 33 8177

Gene and significance breakdown #

Total genes and gene combinations: 68
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
PKHD1 596 773 1003 2398 190 0 5 4400
PKD1 859 308 780 341 217 4 8 2313
PKD2 177 49 318 166 38 0 0 697
LOC129992813, PKD2 32 5 103 42 8 0 1 184
UMOD 35 40 69 18 26 0 10 182
LOC126859690, PKHD1 26 38 38 96 7 0 0 175
GANAB 8 13 31 10 0 0 0 62
DNAJB11 9 7 7 0 1 0 0 22
DZIP1L 4 3 3 1 4 0 0 15
ALG5 4 3 3 0 0 0 0 10
MUC1 2 3 3 0 1 0 1 10
IFT140, LOC105371046 7 1 1 0 0 0 0 9
IFT140 5 1 0 0 0 0 0 6
MIR1225, PKD1 3 1 1 0 1 0 0 6
​intergenic 0 0 1 0 0 0 4 5
ALG9 4 0 1 0 0 0 0 5
CC2D2A 4 1 0 0 0 0 0 5
MIR6511B1, PKD1 1 2 1 1 0 0 0 5
CEP290 4 0 0 0 0 0 0 4
LRP5 0 0 1 0 0 0 4 4
MIR1225, PKD1, TSC2 3 2 1 0 0 0 0 4
NEK8 3 0 1 0 0 0 0 4
LOC130058212, PKD1 0 0 0 3 0 0 0 3
LOC123477784, LOC129992813, LOC129992814, PKD2 2 0 0 0 0 0 0 2
LRP6 0 0 2 0 0 0 0 2
NTHL1, PKD1, TSC2 2 0 0 0 0 0 0 2
PKD1, RAB26 2 0 0 0 0 0 0 2
PKD1, TSC2 1 0 1 0 0 0 0 2
PLCE1 0 0 2 0 0 0 0 2
TMEM67 0 2 0 0 0 0 0 2
ABCG2, DMP1, DSPP, FAM13A, GPRIN3, HERC3, HERC5, HERC6, HSD17B11, HSD17B13, IBSP, KLHL8, MEPE, NAP1L5, NUDT9, PIGY, PKD2, PPM1K, PYURF, SNCA, SPARCL1, SPP1, TIGD2 1 0 0 0 0 0 0 1
ABCG2, DMP1, DSPP, IBSP, MEPE, PKD2, PPM1K, SPP1 0 0 1 0 0 0 0 1
ANO5 1 0 0 0 0 0 0 1
BRICD5, CASKIN1, DNASE1L2, E4F1, MLST8, PGP, PKD1, RAB26, TRAF7 1 0 0 0 0 0 0 1
COL4A4 1 0 0 0 0 0 0 1
CYS1 1 0 0 0 0 0 0 1
DEUP1 0 0 1 0 0 0 0 1
DHX34 0 1 0 0 0 0 0 1
DKK3 0 0 1 0 0 0 0 1
DKK3, LOC130005346 0 0 1 0 0 0 0 1
DYNC2H1 1 0 0 0 0 0 0 1
EFHC1, IL17A, IL17F, MCM3, MIR133B, MIR206, PAQR8, PKHD1, TRAM2 1 0 0 0 0 0 0 1
EP300 0 0 1 0 0 0 0 1
FAM13A, PKD2 1 0 0 0 0 0 0 1
FZD3 0 1 0 0 0 0 0 1
GANAB, INTS5 1 0 0 0 0 0 0 1
HDAC8 0 1 0 0 0 0 0 1
HNF1B 1 0 0 0 0 0 0 1
IFT140, LOC126862260 0 0 1 0 0 0 0 1
KIF4A 0 1 0 0 0 0 0 1
LOC101927082, PKHD1 0 1 0 0 0 0 0 1
LOC107303339, VHL 1 0 0 0 0 0 0 1
LOC130058211, PKD1 1 0 0 0 0 0 0 1
LOC130058212, LOC130058213, MIR3180-5, MIR4516, PKD1 1 0 0 0 0 0 0 1
MIR1225, NTHL1, PKD1, TSC2 1 0 0 0 0 0 0 1
MKKS 0 1 0 0 0 0 0 1
MKS1 0 0 1 0 0 0 0 1
NPHP3, NPHP3-ACAD11 1 0 0 0 0 0 0 1
ONECUT2 0 0 1 0 0 0 0 1
PAX2 0 1 0 0 0 0 0 1
PIK3CA 0 0 1 0 0 0 0 1
PKD2, SPP1 1 0 0 0 0 0 0 1
SCAF4 1 0 0 0 0 0 0 1
SEC63 0 0 1 0 0 0 0 1
SHOC2 1 0 0 0 0 0 0 1
SLC7A9 0 0 1 0 0 0 0 1
TSC2 0 0 0 1 0 0 0 1
UNC13C 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 155
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 572 197 707 2574 186 0 0 4236
Fulgent Genetics, Fulgent Genetics 254 93 404 257 22 0 0 1030
Department of Pathology and Laboratory Medicine, Sinai Health System 173 24 168 195 146 0 0 706
Natera, Inc. 54 35 266 155 100 0 0 610
Illumina Laboratory Services, Illumina 10 3 384 61 76 0 0 534
Baylor Genetics 153 296 39 0 0 0 0 485
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 228 51 143 6 0 0 0 428
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 37 10 62 61 175 0 0 345
Juno Genomics, Hangzhou Juno Genomics, Inc 198 39 91 0 0 0 0 328
Counsyl 10 166 103 21 3 0 0 303
MVZ Medizinische Genetik Mainz 137 28 110 0 0 0 0 275
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 19 24 17 24 72 0 0 156
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 82 60 0 0 0 0 0 142
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 51 38 47 0 0 0 0 136
Myriad Genetics, Inc. 7 116 2 0 0 0 0 125
Cavalleri Lab, Royal College of Surgeons in Ireland 76 16 22 0 0 0 0 114
Molecular Biology Laboratory, Fundació Puigvert 67 41 0 0 0 4 0 112
Revvity Omics, Revvity 19 27 56 0 0 0 0 102
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 36 15 22 1 0 0 8 81
Genome-Nilou Lab 2 2 30 12 32 0 0 78
Centre for Mendelian Genomics, University Medical Centre Ljubljana 31 17 26 1 0 0 0 74
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 16 22 33 2 1 0 0 73
OMIM 69 0 0 0 0 0 0 69
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 31 9 28 0 0 0 0 68
Mendelics 24 9 8 5 15 0 0 61
Pars Genome Lab 1 0 3 7 47 0 0 58
3billion 18 27 12 0 0 0 0 57
Neuberg Centre For Genomic Medicine, NCGM 9 8 38 0 0 0 0 55
Institute of Human Genetics, Cologne University 8 15 18 0 0 0 0 41
MGZ Medical Genetics Center 18 4 12 0 0 0 0 34
Institute of Human Genetics, University of Leipzig Medical Center 15 4 13 1 0 0 0 33
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 22 11 0 0 0 0 0 33
Molecular Genetics, Royal Melbourne Hospital 11 4 10 2 1 0 0 28
Athena Diagnostics 0 0 0 0 26 0 0 26
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 14 10 1 0 0 0 0 24
Sydney Genome Diagnostics, Children's Hospital Westmead 4 8 7 0 0 0 0 19
Laboratory of Molecular Genetics, Children's Memorial Health Institute 7 12 0 0 0 0 0 19
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 2 5 11 0 0 0 0 18
Johns Hopkins Genomics, Johns Hopkins University 2 4 8 4 0 0 0 18
GeneReviews 0 0 0 0 0 0 15 15
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 13 2 0 0 0 0 0 15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 6 0 0 0 0 0 15
Centre for Molecular Medicine & Biobanking, University of Malta 4 6 4 0 0 0 0 14
SIB Swiss Institute of Bioinformatics 2 2 2 1 6 0 0 13
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 4 5 0 0 0 0 12
Department of Human Genetics, Hannover Medical School 1 8 3 0 0 0 0 12
Genomics And Bioinformatics Analysis Resource, Columbia University 4 8 0 0 0 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 5 0 0 0 0 0 11
Genomics England Pilot Project, Genomics England 9 2 0 0 0 0 0 11
Eurofins-Biomnis 5 6 0 0 0 0 0 11
Centre for Genetic Disorders, Banaras Hindu University 9 0 0 0 0 0 1 10
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 9 0 0 0 0 0 10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 2 6 0 0 0 0 10
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 2 4 4 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 9 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 3 0 0 0 0 0 9
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 2 5 0 0 0 0 9
Prenatal Diagnosis Center, Inner Mongolia Medical University 9 0 0 0 0 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 1 4 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 1 2 5 0 0 0 0 8
Yale Center for Mendelian Genomics, Yale University 5 3 0 0 0 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 1 4 0 0 0 0 8
Lifecell International Pvt. Ltd 4 4 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 2 4 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 2 0 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 1 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 4 0 0 6
Human Genetics Bochum, Ruhr University Bochum 0 5 1 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 1 0 0 0 0 0 6
Genesis Genoma Lab, Genesis Genoma Lab 0 4 1 0 0 0 0 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 3 1 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 1 0 0 0 0 0 4
Institute of Human Genetics, University of Wuerzburg 2 1 1 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 1 0 0 0 0 4
University of Iowa Renal Genetics Clinic, University of Iowa 1 1 1 1 0 0 0 4
Center for Reproductive Medicine, Peking University Third Hospital 4 0 0 0 0 0 0 4
Arkana Molecular Diagnostic Laboratory, Arkana Laboratories 2 0 2 0 0 0 0 4
Precision Medicine Center, Zhengzhou University 0 2 2 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 3 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 3 0 0 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 0 3
Stefan Somlo Laboratory, Yale School of Medicine 3 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 1 1 1 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 2 0 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 1 2 0 0 0 0 0 3
New York Genome Center 1 0 2 0 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 3 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 1 1 0 0 0 0 3
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 0 3 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 0 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 2
Breda Genetics srl 0 1 1 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 0 1 0 0 0 0 2
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 2 0 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 0 1 1 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 1 0 0 0 0 0 2
Institute Of Nephrology, Zhong Da Hospital, Southeast University School Of Medicine 2 0 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 2 0 0 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 0 2 0 0 0 0 2
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 2 0 0 0 0 0 2
Genetics Department, Catlab 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 0 1 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 1
North East Yorkshire Genomic Laboratory Hub 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 0 1
Department of Urology, The First Affiliated Hospital of Henan University of Traditional Chinese Medicine 0 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 0 1 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 1
Medical Genetics, Spectrum Health 0 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 1 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 0 1
Laboratory of Nephrology, Qingdao Municipal Hospital 0 0 1 0 0 0 0 1
Savige Laboratory, The University of Melbourne 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 0 1
Department of Urology, Hunan Children's Hospital 1 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 0 1 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.