ClinVar Miner

Variants studied for Ornithine carbamoyltransferase deficiency

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
40 16 17 8 7 80

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
OTC 40 16 17 8 7 80

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 5 10 2 4 35
OMIM 27 0 0 0 0 27
Illumina Clinical Services Laboratory,Illumina 0 0 4 6 3 13
Caldovic Lab,Children's National Health System 0 6 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 1 2 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 2 0 0 2
Counsyl 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 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.