ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.858G>A (p.Val286=)

gnomAD frequency: 0.00028  dbSNP: rs150623275
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186716 SCV000240282 benign not specified 2014-12-02 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 RCV001080203 SCV000762806 likely benign Pyridoxine-dependent epilepsy 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000641169 SCV001142980 likely benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001080203 SCV004049179 benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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