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
108 27 85 41 153 11 415

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKD1 86 20 74 39 141 6 357
LOC105371049, PKD1 19 7 11 2 12 1 51
LRP5 0 0 0 0 0 4 4
ALG9 1 0 0 0 0 0 1
MIR6511B1, PKD1 1 0 0 0 0 0 1
PKD1, RAB26 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 31 13 30 0 0 0 74
Mendelics 9 2 9 4 5 0 29
Athena Diagnostics Inc 0 0 0 0 26 0 26
OMIM 16 0 0 0 0 0 16
Fulgent Genetics,Fulgent Genetics 6 1 5 0 0 0 12
Institute of Human Genetics,Cologne University 5 4 2 0 0 0 11
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 4 0 7 0 0 0 11
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,Klinikum rechts der Isar 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 0 2
PreventionGenetics,PreventionGenetics 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
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
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

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