ClinVar Miner

Variants studied for Osteogenesis Imperfecta, Recessive

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
0 1 226 50 37 314

Gene and significance breakdown #

Total genes and gene combinations: 11
Download table as spreadsheet
Gene or gene combination likely pathogenic uncertain significance likely benign benign total
CRTAP 0 81 15 10 106
SERPINH1 0 31 5 8 44
BMP1 0 27 10 1 38
FKBP10 0 25 5 4 34
SP7 0 22 2 3 27
SERPINF1 0 20 2 4 26
BMP1, SFTPC 0 1 6 6 13
PPIB 0 10 3 0 13
PPIB, SNX22 0 7 1 1 9
BMP1, LOC113788269 0 1 1 0 2
P3H1 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 1
Download table as spreadsheet
Submitter likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 226 50 37 314

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.