ClinVar Miner

Variants studied for Joubert syndrome 7

Included ClinVar conditions (2):
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
17 7 107 10 13 154

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPGRIP1L 17 7 106 10 12 152
PKD2 0 0 0 0 1 1
RPGRIP1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 103 10 12 125
UW Hindbrain Malformation Research Program,University of Washington 11 0 0 0 0 11
Fulgent Genetics,Fulgent Genetics 1 1 7 0 0 9
OMIM 7 0 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 2 0 0 5
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1

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