ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.992C>A (p.Thr331Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV003335823 SCV004045932 likely pathogenic Pyridoxine-dependent epilepsy 2022-12-09 criteria provided, single submitter clinical testing

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