ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.955G>A (p.Ala319Thr)

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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 RCV003991823 SCV004810110 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2024-04-04 criteria provided, single submitter clinical testing

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