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
147 175 318 246 51 797

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Non-ketotic hyperglycinemia 138 166 292 220 48 742
not provided 15 12 28 43 12 105
not specified 0 0 3 2 13 18
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: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 122 26 159 216 37 560
Illumina Clinical Services Laboratory,Illumina 2 0 74 20 21 117
Counsyl 10 39 50 1 0 100
Natera, Inc. 6 2 43 13 21 85
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 77 0 0 0 78
Athena Diagnostics Inc 0 1 11 6 16 34
CeGaT Praxis fuer Humangenetik Tuebingen 3 6 10 8 0 27
Myriad Women's Health, Inc. 0 25 0 0 0 25
Integrated Genetics/Laboratory Corporation of America 11 6 2 1 3 23
Baylor Genetics 5 1 6 0 0 12
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 3 0 0 7
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 2 2 5
Elsea Laboratory,Baylor College of Medicine 0 0 4 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 3
GeneReviews 3 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 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
New York Genome Center 0 1 1 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
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1

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