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 7 5 0 0 53

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
TMEM67 42 7 5 53

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
UW Hindbrain Malformation Research Program,University of Washington 34 5 0 39
OMIM 12 0 0 12
Broad Institute Rare Disease Group,Broad Institute 1 1 2 4
Baylor Miraca Genetics Laboratories, 1 0 1 2
Genetic Services Laboratory, University of Chicago 2 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 1 1
Cancer Diagnostics Division,Gene Solutions 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.