ClinVar Miner

Variants studied for Joubert syndrome 6

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
42 10 57 2 8 116

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TMEM67 42 10 57 2 8 116

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 51 2 8 61
UW Hindbrain Malformation Research Program,University of Washington 34 5 0 0 0 39
OMIM 12 0 0 0 0 12
Broad Institute Rare Disease Group,Broad Institute 2 3 3 0 0 8
Baylor Genetics 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 1 0 0 0 1

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