ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.193-20C>T

gnomAD frequency: 0.00018  dbSNP: rs199762757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123616 SCV000166955 benign not specified 2014-03-10 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 RCV002055405 SCV002478855 likely benign Pyridoxine-dependent epilepsy 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002055405 SCV004050354 benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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