ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.383G>T (p.Gly128Val)

dbSNP: rs554152771
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625910 SCV000746492 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2017-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625910 SCV001610715 likely benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815420 SCV002063868 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001815420 SCV003814844 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547762 SCV004768615 likely benign PEX13-related disorder 2022-06-27 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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