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 not provided total
37 22 80 0 25 19 174

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
CLCN5 27 16 72 24 12 145
CLCN5, LOC126863258 9 6 8 1 7 28
CLCN5, LOC126863258, LOC130068287, MIR188, MIR362, MIR500A, MIR500B, MIR501, MIR502, MIR532, MIR660 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Illumina Laboratory Services, Illumina 0 0 61 25 0 86
GeneReviews 4 0 0 0 18 22
MVZ Medizinische Genetik Mainz 1 6 5 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 3 0 0 11
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 10 0 0 0 0 10
OMIM 7 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 2 0 0 3
Sydney Genome Diagnostics, Children's Hospital Westmead 1 2 0 0 0 3
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 2 1 0 0 0 3
Baylor Genetics 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 2
Mendelics 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
3billion, Medical Genetics 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 1

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