ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1809C>T (p.Ile603=)

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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 RCV003603553 SCV004524419 likely benign Peroxisome biogenesis disorder 2B 2023-03-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956519 SCV004778056 likely benign PEX5-related disorder 2019-09-04 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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