ClinVar Miner

Variants studied for Dent disease type 1

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 total
29 2 63 0 26 120

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CLCN5 28 2 63 25 118
CLCN5, MIR188, MIR362, MIR500A, MIR500B, MIR501, MIR502, MIR532, MIR660 1 0 0 0 1
CLCN5, MIR532 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance benign total
Illumina Clinical Services Laboratory,Illumina 0 0 61 25 86
GeneReviews 19 2 0 0 21
OMIM 7 0 0 0 7
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 2
Baylor Genetics 1 0 0 0 1
Mendelics 0 0 0 1 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 1
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 1 0 0 0 1

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