ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1201-8T>C

gnomAD frequency: 0.00008  dbSNP: rs558579795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231130 SCV000286296 likely benign Pyridoxine-dependent epilepsy 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001651087 SCV001863741 likely benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000231130 SCV004050679 likely benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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