ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.651-25_651-20del

dbSNP: rs781687339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697963 SCV000721477 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing
Invitae RCV003117389 SCV003784856 likely benign Pyridoxine-dependent epilepsy 2023-10-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003117389 SCV004049649 likely benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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