ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.142C>T (p.Leu48Phe)

gnomAD frequency: 0.00022  dbSNP: rs60203778
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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) RCV000318147 SCV000343506 uncertain significance not provided 2018-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001057894 SCV001222415 benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549611 SCV004708562 likely benign PEX13-related disorder 2022-07-26 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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