ClinVar Miner

Variants studied for Polycystic kidney disease, adult type

Coded as:
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
188 54 130 43 153 11 563

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKD1 152 42 113 41 141 6 482
LOC105371049, PKD1 29 11 17 2 12 1 69
LRP5 0 0 0 0 0 4 4
MIR6511B1, PKD1 1 1 0 0 0 0 2
NTHL1, PKD1, TSC2 2 0 0 0 0 0 2
ALG9 1 0 0 0 0 0 1
MIR1225, PKD1 1 0 0 0 0 0 1
PKD1, RAB26 1 0 0 0 0 0 1
PKD1, TSC2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 23 7 28 37 149 0 244
Cavalleri Lab, Royal College of Surgeons in Ireland 62 10 20 0 0 0 92
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 34 19 36 0 0 0 89
Mendelics 9 2 9 4 5 0 29
Athena Diagnostics Inc 0 0 0 0 26 0 26
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 10 1 10 0 0 0 21
OMIM 16 0 0 0 0 0 16
Institute of Human Genetics,Cologne University 5 5 5 0 0 0 15
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 8 2 4 0 0 0 14
Fulgent Genetics,Fulgent Genetics 6 1 5 0 0 0 12
Centre for Genetic Disorders, Banaras Hindu University 9 0 0 0 0 1 10
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 0 0 0 0 0 8 8
Institute of Human Genetics, University of Leipzig Medical Center 1 3 3 1 0 0 8
Johns Hopkins Genomics,Johns Hopkins University 1 0 7 0 0 0 8
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 2 3 0 0 0 0 5
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 2 0 0 0 3
Arkana Molecular Diagnostic Laboratory,Arkana Laboratories 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
PreventionGenetics,PreventionGenetics 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 0 0 1 0 0 1
Stefan Somlo Laboratory,Yale School of Medicine 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 0 1
Swedish Neurofibromatosis Center,Swedish Medical Center 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.