ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.309A>C (p.Ala103=)

gnomAD frequency: 0.00001  dbSNP: rs1751590460
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459675 SCV001663525 likely benign Pyridoxine-dependent epilepsy 2021-07-12 criteria provided, single submitter clinical testing

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