ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln)

gnomAD frequency: 0.00070  dbSNP: rs145690714
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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) RCV000307470 SCV000332691 uncertain significance not provided 2015-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087319 SCV001109315 likely benign Peroxisome biogenesis disorder 2B 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955435 SCV004784572 likely benign PEX5-related disorder 2022-07-05 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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