ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=)

dbSNP: rs1467521069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728847 SCV000856465 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001396110 SCV001597831 likely benign Pyridoxine-dependent epilepsy 2023-11-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928219 SCV004742924 likely benign ALDH7A1-related disorder 2019-09-26 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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