ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1318-8C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141311 SCV003823145 uncertain significance Pyridoxine-dependent epilepsy 2023-01-06 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003141311 SCV004171294 uncertain significance Pyridoxine-dependent epilepsy criteria provided, single submitter clinical testing

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