ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.79G>A (p.Ala27Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003991829 SCV004810134 uncertain significance Pyridoxine-dependent epilepsy 2024-04-04 criteria provided, single submitter clinical testing

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