ClinVar Miner

Variants studied for Meckel syndrome, type 4

Included ClinVar conditions (3):
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
16 17 10 0 0 42

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
CEP290 16 17 10 42

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
Fulgent Genetics,Fulgent Genetics 9 1 10 20
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 12 0 12
OMIM 4 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 3
Kasturba Medical College,Manipal University 1 2 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 1
Hadassah Hebrew University Medical Center 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.