ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)

dbSNP: rs2124478725
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246719 SCV002519769 pathogenic Dystonia 9 2022-05-04 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290852 SCV002579820 pathogenic Encephalopathy due to GLUT1 deficiency 2022-01-21 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002290852 SCV004171240 pathogenic Encephalopathy due to GLUT1 deficiency 2023-11-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290852 SCV004174009 pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing

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