ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1515C>T (p.Asp505=)

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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 RCV003603952 SCV004550197 likely benign Peroxisome biogenesis disorder 2B 2023-03-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004723457 SCV005336502 likely benign PEX5-related disorder 2024-08-19 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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