ClinVar Miner

Variants studied for Nephronophthisis 4

Coded as:
Minimum submission review status: Collection method:
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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
20 9 129 18 34 206

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NPHP4 20 9 125 18 34 202
LOC129929213, NPHP4 0 0 4 0 0 4

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 114 18 28 160
Genome-Nilou Lab 0 0 0 0 11 11
Baylor Genetics 0 0 7 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 5 1 0 7
OMIM 6 0 0 0 0 6
Mendelics 0 0 1 1 3 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 3 1 0 0 0 4
Precision Medicine Center, Zhengzhou University 2 1 1 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 2 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 3
MVZ Medizinische Genetik Mainz 2 0 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1

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