ClinVar Miner

Variants studied for Joubert syndrome 20; Meckel syndrome, type 11

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
34 6 162 132 17 350

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TMEM231 28 5 154 126 16 328
LOC130059440, TMEM231 3 1 7 6 1 18
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 2
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 3
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 34 6 161 132 17 350
Fulgent Genetics, Fulgent Genetics 0 0 4 0 0 4
New York Genome Center 0 0 1 0 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.