ClinVar Miner

Variants studied for GLUT1 deficiency syndrome

Included ClinVar conditions (8):
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 not provided total
76 45 136 55 53 11 348

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC2A1 73 45 132 54 52 11 339
SLC2A1, SLC2A1-DT 2 0 3 0 1 0 6
LOC129930369, SLC2A1 0 0 1 1 0 0 2
LOC121725020, LOC129930362, LOC129930363, LOC129930364, LOC129930365, LOC129930366, LOC129930367, LOC129930368, LOC129930369, SLC2A1, SLC2A1-DT 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 38 24 67 49 31 0 209
Illumina Laboratory Services, Illumina 1 0 51 4 41 0 97
Genetic Services Laboratory, University of Chicago 8 2 5 0 0 0 15
OMIM 14 0 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 7 1 0 0 0 11
Fulgent Genetics, Fulgent Genetics 3 1 4 2 0 0 10
MGZ Medical Genetics Center 3 3 2 0 0 0 8
Baylor Genetics 4 0 3 0 0 0 7
GeneReviews 0 0 0 0 0 7 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 3 0 0 0 0 7
Mendelics 5 1 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 3 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
3billion 1 2 2 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 0 0 0 2
New York Genome Center 1 0 1 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 1 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
EVOGEN 0 1 0 0 0 0 1

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