ClinVar Miner

Variants studied for Bardet-Biedl syndrome 13

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
17 37 52 4 12 118

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MKS1 16 37 47 3 11 110
LOC130061271, MKS1 1 0 5 1 1 8

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 45 4 8 57
Baylor Genetics 13 34 2 0 0 49
Genome-Nilou Lab 0 0 4 0 6 10
OMIM 4 0 0 0 0 4
Counsyl 0 3 1 0 0 4
Molecular Endocrinology Laboratory, Christian Medical College 0 0 2 0 0 2
Mendelics 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
InterGenetics 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1
Pars Genome Lab 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.