ClinVar Miner

Variants studied for GLUT1 deficiency syndrome 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
28 12 47 3 39 126

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 total
SLC2A1 28 12 47 3 39 126

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 40 3 39 82
Genetic Services Laboratory, University of Chicago 7 1 5 0 0 13
OMIM 6 0 0 0 0 6
Mendelics 5 1 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 4 0 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 2 2 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 1 0 0 3
Baylor Genetics 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 2 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 1 0 0 0 0 1

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