ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser)

dbSNP: rs2124446500
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001822976 SCV002072494 likely pathogenic Childhood onset GLUT1 deficiency syndrome 2 no assertion criteria provided clinical testing

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