ClinVar Miner

Variants studied for Nephronophthisis 19

Coded as:
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
5 2 3 0 4 14

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
DCDC2 4 1 3 4 12
DCDC2, KAAG1 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 4 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 2 0 4
Genome-Nilou Lab 0 0 0 4 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 1
3billion 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 1

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