ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.914-4T>G

gnomAD frequency: 0.00001  dbSNP: rs771187992
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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 RCV000863094 SCV001003694 likely benign Pyridoxine-dependent epilepsy 2023-04-26 criteria provided, single submitter clinical testing

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