ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2063G>A (p.Trp688Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur RCV005233205 SCV005880176 likely pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 2024-02-27 criteria provided, single submitter clinical testing NM_001126131.1:c.1837C>G in the same patient

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