ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2863T>C (p.Tyr955His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University RCV004759350 SCV004809197 pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 no assertion criteria provided research

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