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
69 132 176 130 46 477

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Non-ketotic hyperglycinemia 59 124 155 24 13 331
not provided 12 11 22 107 37 178
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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 33 8 76 104 37 258
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 8 4 14 27
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 8 2 0 15
Integrated Genetics/Laboratory Corporation of America 5 4 2 1 2 14
GeneDx 4 5 1 1 0 11
OMIM 10 0 0 0 0 10
PreventionGenetics,PreventionGenetics 0 0 0 1 8 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 5 0 8
Lineagen, Inc 6 0 0 0 0 6
Mendelics 2 0 2 1 0 5
Fulgent Genetics,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
Baylor Genetics 3 1 0 0 0 4
GeneReviews 3 0 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 1 0 0 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Ambry Genetics 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 2 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 1

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