ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.19-5C>T

gnomAD frequency: 0.00006  dbSNP: rs376653618
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088710 SCV000769906 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761657 SCV000891829 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SLC2A1: PM2, BP4, BP5, BS2
GeneDx RCV000761657 SCV000970301 likely benign not provided 2018-04-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195740 SCV001366160 benign Epilepsy, idiopathic generalized, susceptibility to, 12 2018-10-24 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Athena Diagnostics RCV001662703 SCV001880323 benign not specified 2021-03-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001662703 SCV002069066 likely benign not specified 2017-12-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001195740 SCV004173985 benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446281 SCV004173986 benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446279 SCV004173987 benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446280 SCV004173988 benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446282 SCV004173989 benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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