ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.342A>G (p.Pro114=)

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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 RCV003651020 SCV004424108 likely benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004554280 SCV004713280 likely benign PEX13-related disorder 2022-09-28 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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