ClinVar Miner

Variants studied for Senior-Loken syndrome 7; Bardet-Biedl syndrome 16

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
33 18 252 189 15 500

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
SDCCAG8 30 17 234 167 13 454
AKT3, SDCCAG8 0 1 16 22 2 41
CEP170, SDCCAG8 2 0 1 0 0 3
ADSS2, AKT3, CATSPERE, CEP170, COX20, DESI2, HNRNPU, SDCCAG8, SPMIP3, ZBTB18 0 0 1 0 0 1
AKT3, AKT3-IT1, CEP170, LINC01347, LOC110120698, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC129388799, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 4
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 32 14 246 187 15 494
Fulgent Genetics, Fulgent Genetics 2 4 49 19 0 74
New York Genome Center 0 0 2 0 0 2
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 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.