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
25 31 160 19 4 238

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 total
NPHP1 18 30 154 19 4 224
LOC126806306, NPHP1 3 1 6 0 0 10
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: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 9 29 127 15 0 180
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
MVZ Medizinische Genetik Mainz 1 0 1 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
Juno Genomics, Hangzhou Juno Genomics, Inc 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, Medical Genetics 1 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 0 0 0 1

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