ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.882G>C (p.Leu294=)

gnomAD frequency: 0.00005  dbSNP: rs751053781
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089019 SCV000640331 likely benign Pyridoxine-dependent epilepsy 2023-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000826963 SCV000968567 likely benign not provided 2018-03-27 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.
Genome-Nilou Lab RCV001089019 SCV004049112 likely benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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