ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.921A>G (p.Glu307=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003074153 SCV003453505 likely benign Pyridoxine-dependent epilepsy 2023-08-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003074153 SCV003823152 uncertain significance Pyridoxine-dependent epilepsy 2019-05-28 criteria provided, single submitter clinical testing

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