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
21 12 130 18 34 211

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NPHP4 21 11 126 18 34 206
LOC129929213, NPHP4 0 0 4 0 0 4
BBS9 0 1 0 0 0 1

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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 5 1 0 9
Baylor Genetics 0 0 7 0 0 7
OMIM 6 0 0 0 0 6
Mendelics 0 0 1 1 3 5
Neuberg Centre For Genomic Medicine, NCGM 0 2 3 0 0 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
MVZ Medizinische Genetik Mainz 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
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, Medical Genetics 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1

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