ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.684A>G (p.Leu228=)

dbSNP: rs2124449097
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553459 SCV001774330 likely benign not provided 2018-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072063 SCV002461106 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2021-03-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446827 SCV004173308 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446826 SCV004173309 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446824 SCV004173310 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446825 SCV004173311 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446828 SCV004173313 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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