ClinVar Miner

Submissions for variant NM_006516.2(SLC2A1):c.-388G>T

dbSNP: rs544483207
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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 RCV000357986 SCV000357737 uncertain significance GLUT1 deficiency syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263241 SCV000357738 uncertain significance Dystonic disorder 2016-06-14 criteria provided, single submitter clinical testing

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