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
15 6 124 18 34 194

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 15 6 120 18 34 190
LOC129929213, NPHP4 0 0 4 0 0 4

Submitter and significance breakdown #

Total submitters: 18
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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
OMIM 5 0 0 0 0 5
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 2 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 Institute Rare Disease Group, Broad Institute 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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 1

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