ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1823-6T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990208 SCV004806613 uncertain significance Combined oxidative phosphorylation defect type 13 2024-03-26 criteria provided, single submitter clinical testing

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