ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.517-18G>A

gnomAD frequency: 0.00013  dbSNP: rs372553463
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442864 SCV000514679 benign not specified 2015-05-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002061516 SCV002493531 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445939 SCV004173422 benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445938 SCV004173424 benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445936 SCV004173425 benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445937 SCV004173426 benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445940 SCV004173427 benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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