ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.[2693T>C];[924G>T]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital RCV000258814 SCV000328446 likely pathogenic Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome 2016-08-08 criteria provided, single submitter clinical testing

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