ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.237A>G (p.Ser79=)

gnomAD frequency: 0.00063  dbSNP: rs138220337
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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) RCV000349532 SCV000342198 likely benign not specified 2016-05-16 criteria provided, single submitter clinical testing
Invitae RCV000884934 SCV001028344 likely benign Peroxisome biogenesis disorder 5A (Zellweger) 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430823 SCV004155969 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing PEX2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003949912 SCV004758766 likely benign PEX2-related condition 2020-08-25 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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