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
367 51 71 53 27 523

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 327 9 19 11 8 370
Ornithine carbamoyltransferase deficiency 87 41 51 37 16 221
not specified 1 1 4 12 14 30
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: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GenMed Metabolism Lab 317 0 0 0 0 317
Invitae 37 19 36 37 7 136
GeneDx 18 7 4 11 14 54
OMIM 27 0 0 0 1 28
Molecular Genetics laboratory,Necker Hospital 24 0 0 0 0 24
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 1 8 0 5 22
Integrated Genetics/Laboratory Corporation of America 5 8 4 0 3 20
Illumina Clinical Services Laboratory,Illumina 0 0 7 3 8 18
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 4 0 5 12
Natera, Inc. 1 1 4 0 6 12
Mendelics 4 4 1 0 2 11
Ambry Genetics 0 0 3 2 5 10
PreventionGenetics, PreventionGenetics 0 0 0 2 7 9
CeGaT Praxis fuer Humangenetik Tuebingen 5 0 2 0 0 7
Caldovic Lab,Children's National Health System 0 6 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 3 0 0 4
CSER _CC_NCGL, University of Washington 0 0 3 0 0 3
Baylor Genetics 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 2
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 2 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 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.