ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.129A>G (p.Gly43=)

gnomAD frequency: 0.00015  dbSNP: rs932238098
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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) RCV000728580 SCV000856172 uncertain significance not provided 2017-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001456831 SCV001660619 likely benign Peroxisome biogenesis disorder 2B 2024-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945776 SCV004765445 likely benign PEX5-related disorder 2021-09-02 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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