ClinVar Miner

Variants studied for Nephronophthisis 3

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
17 12 67 8 17 120

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
NPHP3, NPHP3-ACAD11 17 12 64 6 16 114
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 3 2 1 6

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 63 8 17 88
Molecular Biology Laboratory, Fundació Puigvert 6 2 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 1 0 0 5
OMIM 4 0 0 0 0 4
Precision Medicine Center, Zhengzhou University 2 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 2
Molecular Genetics Laboratory, CHU Lille 1 0 1 0 0 2
3billion 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Sayer Lab, Translational and Clinical Research Institute, Newcastle Unversity 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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