ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)

dbSNP: rs1596358408
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995843 SCV001150220 likely pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 2019-04-03 criteria provided, single submitter clinical testing

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