ClinVar Miner

Variants studied for Joubert syndrome 6

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
44 13 59 2 8 121

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 44 13 59 2 8 121

Submitter and significance breakdown #

Total submitters: 18
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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
Fulgent Genetics,Fulgent Genetics 3 1 1 0 0 5
Baylor Genetics 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
School of Computer Science,University of Waterloo 1 0 0 0 0 1

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