ClinVar Miner

Variants studied for GLUT1 deficiency syndrome

Included ClinVar conditions (6):
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
42 19 66 4 41 3 170

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC2A1 42 19 66 4 41 3 170

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 51 4 41 0 96
Genetic Services Laboratory, University of Chicago 8 2 5 0 0 0 15
OMIM 14 0 0 0 0 0 14
Mendelics 5 1 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 3 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 4 0 0 0 0 6
Baylor Genetics 4 0 1 0 0 0 5
Fulgent Genetics,Fulgent Genetics 2 1 1 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 2 2 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 0 0 0 0 4
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
Athena Diagnostics Inc 0 0 0 0 2 0 2
Experimental Epileptology, AG Lerche,Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 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
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 1 0 0 0 0 0 1

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