ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.470dup (p.Thr158fs)

dbSNP: rs1057518821
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415305 SCV000492657 pathogenic Cerebellar ataxia; Global developmental delay; Seizure; Microcephaly; Myoclonus 2016-02-23 no assertion criteria provided clinical testing

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