ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=)

gnomAD frequency: 0.00004  dbSNP: rs757704473
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001484628 SCV001689047 likely benign Pyridoxine-dependent epilepsy 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001587431 SCV001827063 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001484628 SCV003823144 uncertain significance Pyridoxine-dependent epilepsy 2019-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980418 SCV004792046 likely benign ALDH7A1-related disorder 2019-02-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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