ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1452C>T (p.Asn484=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003518170 SCV004262782 likely benign Pyridoxine-dependent epilepsy 2024-01-19 criteria provided, single submitter clinical testing

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