ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1506T>C (p.Thr502=)

gnomAD frequency: 0.00004  dbSNP: rs565405031
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 RCV001489195 SCV001693732 likely benign Pyridoxine-dependent epilepsy 2024-01-29 criteria provided, single submitter clinical testing

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