ClinVar Miner

Variants studied for renal tubular dysgenesis

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 total
31 54 607 74 73 811

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACE 17 33 339 39 42 452
AGT 3 7 124 20 11 162
AGTR1 5 9 75 8 13 105
REN 5 3 57 3 5 72
LOC107548112, REN 0 1 10 1 1 13
ACE, LOC130061383 0 1 2 3 1 6
EBF3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 7 41 412 47 1 508
Illumina Laboratory Services, Illumina 0 0 228 36 68 332
OMIM 15 0 0 0 0 15
Genome-Nilou Lab 0 0 0 0 14 14
Neuberg Centre For Genomic Medicine, NCGM 0 5 3 0 0 8
Molecular Biology Laboratory, Fundació Puigvert 3 1 0 0 0 4
Baylor Genetics 1 1 1 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 1

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