ClinVar Miner

Variants studied for Joubert syndrome 17

Included ClinVar conditions (8):
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
75 11 42 16 39 173

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CPLANE1 65 10 38 12 36 151
TCTN3 2 0 2 3 3 10
OFD1 7 0 2 0 0 9
PDE6D 1 1 0 1 0 3

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 3 25 9 35 95
UW Hindbrain Malformation Research Program,University of Washington 43 1 0 0 0 44
OMIM 15 0 1 0 0 16
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 7 6 13
Genetic Services Laboratory, University of Chicago 4 1 5 0 0 10
Fulgent Genetics 2 0 5 0 0 7
GeneReviews 6 0 0 0 0 6
Institute of Medical Genetics,University of Zurich 4 2 0 0 0 6
Illumina Clinical Services Laboratory,Illumina 0 0 5 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 4
Broad Institute Rare Disease Group,Broad Institute 1 1 2 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 3 3
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1

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