ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.1059A>G (p.Gln353=)

gnomAD frequency: 0.00001  dbSNP: rs892266553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002133623 SCV002452413 likely benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553820 SCV004780116 likely benign PEX13-related disorder 2019-08-27 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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