ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1470T>C (p.Ala490=)

dbSNP: rs1057520651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424267 SCV000516761 likely benign not specified 2016-02-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002521558 SCV003233079 likely benign Pyridoxine-dependent epilepsy 2022-08-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002521558 SCV004050084 likely benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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