ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.650+18T>C

gnomAD frequency: 0.00003  dbSNP: rs570318899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441043 SCV000527829 likely benign not specified 2018-03-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059635 SCV002424670 likely benign Pyridoxine-dependent epilepsy 2023-12-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002059635 SCV004049660 likely benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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