ClinVar Miner

Variants studied for nephronophthisis 1

Included ClinVar conditions (3):
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
22 10 85 16 4 137

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
NPHP1 15 10 85 16 4 130
LOC126806306, NPHP1 3 0 0 0 0 3
LOC126806305, LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 2 0 0 0 0 2
LOC126806305, LOC126806306, MALL, NPHP1 1 0 0 0 0 1
LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 1 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 4 8 50 12 0 74
Illumina Laboratory Services, Illumina 0 0 38 4 4 46
OMIM 5 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 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.