ClinVar Miner

Variants in gene GLDC

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
44 125 149 46 39 344

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Non-ketotic hyperglycinemia 39 119 133 40 36 321
not provided 5 8 12 8 10 40
not specified 0 0 2 2 12 16
Inborn genetic diseases 2 0 0 0 0 2
See cases 0 0 2 0 0 2
Smith-Magenis Syndrome-like 2 0 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 1
Obesity; Global developmental delay; Generalized epilepsy 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 18 5 53 23 30 129
Counsyl 10 39 50 1 0 100
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 77 0 0 0 78
Illumina Clinical Services Laboratory,Illumina 2 0 39 14 7 62
Athena Diagnostics Inc 0 1 5 3 12 21
Integrated Genetics/Laboratory Corporation of America 5 4 2 1 2 14
OMIM 10 0 0 0 0 10
GeneDx 3 5 1 1 0 10
PreventionGenetics 0 0 0 1 8 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 5 0 8
Fulgent Genetics 3 0 2 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 2 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 1 0 2 2 5
GeneReviews 3 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 2 1 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 1 0 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 3
Ambry Genetics 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 2 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
Ege University Pediatric Genetics,Ege University 1 0 1 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 2
Claritas Genomics 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 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.