ClinVar Miner

Variants studied for Dent disease type 1

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 total
32 2 3 0 0 36

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CLCN5 31 2 3 35
CLCN5, MIR188, MIR362, MIR500A, MIR500B, MIR501, MIR502, MIR532, MIR660 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
GeneReviews 20 2 0 21
OMIM 11 0 0 11
Baylor Miraca Genetics Laboratories, 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 1
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 1 0 0 1

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