ClinVar Miner

Variants studied for Joubert syndrome with renal defect

Included ClinVar conditions (4):
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
22 7 150 14 17 210

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPGRIP1L 17 7 106 10 12 152
NPHP1 3 0 43 4 4 54
​intergenic 2 0 0 0 0 2
PKD2 0 0 0 0 1 1
RPGRIP1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 141 14 16 171
Fulgent Genetics,Fulgent Genetics 1 1 10 0 0 12
UW Hindbrain Malformation Research Program,University of Washington 12 0 0 0 0 12
OMIM 8 0 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 2 0 0 5
Baylor Genetics 1 0 3 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1

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