ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.354T>C (p.Phe118=)

gnomAD frequency: 0.00021  dbSNP: rs143378216
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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) RCV000595614 SCV000703615 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089344 SCV001040582 likely benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553314 SCV004783195 likely benign PEX13-related disorder 2020-11-23 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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