ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)

dbSNP: rs1484810169
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000855755 SCV000998969 likely pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 2019-07-17 criteria provided, single submitter clinical testing

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