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
18 4 7 0 0 28

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
RPGRIP1L 18 4 7 28

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
UW Hindbrain Malformation Research Program,University of Washington 11 0 0 11
Fulgent Genetics 1 1 7 9
OMIM 7 0 0 7
Genetic Services Laboratory, University of Chicago 0 1 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 1

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