ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)

gnomAD frequency: 0.00002  dbSNP: rs544763390
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970645 SCV001118235 likely benign Peroxisome biogenesis disorder 5A (Zellweger) 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000970645 SCV001806113 uncertain significance Peroxisome biogenesis disorder 5A (Zellweger) 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578803 SCV001806114 uncertain significance Peroxisome biogenesis disorder 5B 2021-07-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905995 SCV004721732 likely benign PEX2-related condition 2023-05-11 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).
Natera, Inc. RCV001276113 SCV001461964 uncertain significance Zellweger spectrum disorders 2020-04-14 no assertion criteria provided clinical testing

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