ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.147+32_147+121del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001443079 SCV001646042 likely benign Peroxisome biogenesis disorder 2B 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001762681 SCV001988671 uncertain significance not provided 2022-01-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Canonical splice site variant with an unclear effect on protein function
PreventionGenetics, part of Exact Sciences RCV003930935 SCV004748185 likely benign PEX5-related disorder 2021-03-16 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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