ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.453G>A (p.Thr151=)

dbSNP: rs368714078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000379864 SCV000342004 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087631 SCV001074944 likely benign Zellweger spectrum disorders 2025-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920137 SCV004732676 likely benign PEX1-related disorder 2023-11-30 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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