ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1059T>C (p.Asn353=)

gnomAD frequency: 0.00001  dbSNP: rs775565970
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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 RCV000973897 SCV001121686 likely benign Peroxisome biogenesis disorder 2B 2024-02-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962909 SCV004782525 likely benign PEX5-related disorder 2019-10-15 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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