ClinVar Miner

Submissions for variant NM_006516.2(SLC2A1):c.-225T>G

gnomAD frequency: 0.00002  dbSNP: rs886046343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313618 SCV000357727 uncertain significance GLUT1 deficiency syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349832 SCV000357728 uncertain significance Dystonic disorder 2016-06-14 criteria provided, single submitter clinical testing

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