ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer)

dbSNP: rs1570590905
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995644 SCV001149934 likely pathogenic Encephalopathy due to GLUT1 deficiency 2019-05-07 criteria provided, single submitter clinical testing

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