ClinVar Miner

Variants studied for Renal tubular dysgenesis

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
24 9 226 36 73 366

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACE 12 5 114 20 42 192
AGT 3 1 50 11 11 76
AGTR1 4 2 37 4 13 59
REN 5 1 21 0 5 32
LOC107548112, REN 0 0 3 1 1 5
ACE, LOC130061383 0 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 223 36 68 327
OMIM 15 0 0 0 0 15
Genome-Nilou Lab 0 0 0 0 14 14
Molecular Biology Laboratory, Fundació Puigvert 3 1 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 0 0 0 3
Baylor Genetics 1 0 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 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
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 0 1 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
Gharavi Laboratory, Columbia University 0 1 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.