ClinVar Miner

Variants studied for Short-rib thoracic dysplasia 3 with or without polydactyly

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
27 14 3 0 0 44

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
DYNC2H1 23 12 3 38
NEK1 2 0 0 2
BBS10 1 0 0 1
FAM98C 0 1 0 1
TCTEX1D2 1 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 1

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
OMIM 21 0 0 21
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 3 0 6
University of Washington Center for Mendelian Genomics,University of Washington 0 5 0 5
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 2 0 3
Baylor Genetics 1 0 1 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang 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.