ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.[2554C>T];[32G>A]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000196524 SCV000255439 likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 2014-03-18 criteria provided, single submitter clinical testing

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