ClinVar Miner

Submissions for variant NM_006516.2(SLC2A1):c.-510G>C

gnomAD frequency: 0.00007  dbSNP: rs886046347
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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 RCV000289450 SCV000357747 uncertain significance GLUT1 deficiency syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344410 SCV000357748 uncertain significance Dystonic disorder 2016-06-14 criteria provided, single submitter clinical testing

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