ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.192+11G>C

gnomAD frequency: 0.00001  dbSNP: rs529506268
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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 RCV002194368 SCV002490492 likely benign Pyridoxine-dependent epilepsy 2024-01-09 criteria provided, single submitter clinical testing

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