ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.930C>T (p.Asp310=)

gnomAD frequency: 0.00002  dbSNP: rs202069068
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 RCV001425731 SCV001628368 likely benign Pyridoxine-dependent epilepsy 2018-11-07 criteria provided, single submitter clinical testing

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