ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln)

gnomAD frequency: 0.00098  dbSNP: rs34194489
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000385335 SCV000343504 uncertain significance not provided 2018-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514036 SCV001721781 benign Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2025-01-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000385335 SCV002541711 uncertain significance not provided 2021-06-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977805 SCV004798422 likely benign PEX26-related disorder 2023-03-28 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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