ClinVar Miner

Variants studied for Dent disease

Included ClinVar conditions (8):
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
61 40 112 27 32 22 275

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
CLCN5 33 21 83 15 29 12 181
OCRL 16 12 16 11 1 4 57
CLCN5, LOC126863258 12 6 13 0 2 6 35
CLCN5, LOC126863258, LOC130068287, MIR188, MIR362, MIR500A, MIR500B, MIR501, MIR502, MIR532, MIR660 1 0 0 0 0 0 1
INPP5B 0 1 0 0 0 0 1
LOC113875008, OCRL 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 67 10 31 0 108
Fulgent Genetics, Fulgent Genetics 4 5 20 16 2 0 47
GeneReviews 5 0 0 0 0 20 25
OMIM 19 0 0 0 0 0 19
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 14 0 0 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 5 0 0 0 13
MVZ Medizinische Genetik Mainz 1 7 5 0 0 0 13
Baylor Genetics 3 1 3 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 3 1 0 0 0 5
Mendelics 3 1 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 0 4 0 0 0 0 4
Sydney Genome Diagnostics, Children's Hospital Westmead 1 3 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
UniProtKB/Swiss-Prot 0 0 0 0 0 3 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 1 1 0 0 0 3
3billion 0 1 1 1 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 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 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
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 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
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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