ClinVar Miner

Variants in gene OTC

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
333 22 36 20 16 403

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 327 7 18 0 2 350
Ornithine carbamoyltransferase deficiency 40 14 16 8 7 77
not specified 1 1 1 12 14 27
History of neurodevelopmental disorder 0 0 2 2 5 9
Global developmental delay; Hyperammonemia 0 0 1 0 0 1
Hyperammonemia 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
ORNITHINE TRANSCARBAMYLASE POLYMORPHISM 0 0 0 0 1 1
Protein avoidance; Abnormality of ornithine metabolism; Hyperammonemia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GenMed Metabolism Lab 317 0 0 0 0 317
GeneDx 18 6 4 9 6 43
Invitae 11 3 9 2 4 29
OMIM 27 0 0 0 1 28
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 1 8 0 5 22
Illumina Clinical Services Laboratory,Illumina 0 0 4 6 3 13
Ambry Genetics 0 0 3 2 5 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 4 0 2 9
PreventionGenetics 0 0 0 2 7 9
Caldovic Lab,Children's National Health System 0 6 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 1 2 2 0 0 5
CSER_CC_NCGL; University of Washington Medical Center 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 2
Fulgent Genetics 1 1 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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.