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: 5
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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
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV003480075 SCV005256958 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004552975 SCV004745043 likely benign PEX13-related disorder 2022-02-08 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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