ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.229T>A (p.Ser77Thr)

gnomAD frequency: 0.00096  dbSNP: rs150161574
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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) RCV000175727 SCV000227265 benign not specified 2015-10-12 criteria provided, single submitter clinical testing
Invitae RCV000879718 SCV001022767 likely benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-01-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480075 SCV004224918 uncertain significance not provided 2023-05-18 criteria provided, single submitter clinical testing BS1
PreventionGenetics, part of Exact Sciences RCV003927610 SCV004745043 likely benign PEX13-related condition 2022-02-08 criteria provided, single submitter 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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