ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.408T>A (p.Ile136=)

gnomAD frequency: 0.00006  dbSNP: rs145776973
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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) RCV000729741 SCV000857428 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001467803 SCV001671833 likely benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-08-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547926 SCV004713431 likely benign PEX13-related disorder 2022-08-05 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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