ClinVar Miner

Variants studied for Adolescent nephronophthisis

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
8 1 2 0 0 11

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NPHP3, NPHP3-ACAD11 8 1 2 11

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 4 0 0 4
Illumina Clinical Services Laboratory,Illumina 0 0 2 2
Broad Institute Rare Disease Group,Broad Institute 2 0 0 2
Institute of Human Genetics,Cologne University 0 1 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 1
Human Molecular Genetics and Metabolic Disorders,Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 1

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