ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.246+8T>A

gnomAD frequency: 0.00003  dbSNP: rs1049927397
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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 RCV002100850 SCV002389773 likely benign Pyridoxine-dependent epilepsy 2023-11-28 criteria provided, single submitter clinical testing

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