ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2386A>C (p.Lys796Gln)

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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, University of Leipzig Medical Center RCV003992140 SCV004812122 uncertain significance Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 2024-03-27 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP3

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