ClinVar Miner

Variants studied for GLUT1 deficiency syndrome

Included ClinVar conditions (5):
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
33 6 44 24 12 2 117

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 33 6 44 24 12 2 117

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 33 24 12 0 69
Genetic Services Laboratory, University of Chicago 8 2 5 0 0 0 15
OMIM 14 0 0 0 0 0 14
Fulgent Genetics 2 1 1 0 0 0 4
HudsonAlpha Institute for Biotechnology 1 2 1 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 2 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Institute of Human Genetics,Uniklinik RWTH Aachen 1 0 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
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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1

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