ClinVar Miner

Variants studied for Dent disease

Included ClinVar conditions (7):
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
55 12 80 10 32 3 188

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CLCN5 43 7 75 10 31 0 165
OCRL 11 4 5 0 0 3 20
CLCN5, MIR188, MIR362, MIR500A, MIR500B, MIR501, MIR502, MIR532, MIR660 1 0 0 0 0 0 1
CLCN5, MIR532 0 0 0 0 1 0 1
INPP5B 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 67 10 31 0 108
GeneReviews 22 4 0 0 0 0 25
OMIM 16 0 0 0 0 0 16
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 10 0 0 0 0 0 10
Baylor Genetics 2 1 3 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 0 0 0 5
Sydney Genome Diagnostics,Children's Hospital Westmead 1 3 0 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 0 0 0 0 3
UniProtKB/Swiss-Prot 0 0 0 0 0 3 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 2 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 0 2 0 0 0 0 2
Mendelics 0 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1

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