ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Elsea Laboratory, Baylor College of Medicine RCV002510535 SCV002820028 pathogenic Succinate-semialdehyde dehydrogenase deficiency 2021-03-08 criteria provided, single submitter curation
Laboratory of Metabolic Disorders, Peking University First Hospital RCV002510535 SCV003935168 likely pathogenic Succinate-semialdehyde dehydrogenase deficiency 2023-06-24 criteria provided, single submitter clinical testing

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