ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.33C>G (p.Pro11=)

gnomAD frequency: 0.00009  dbSNP: rs199668827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730019 SCV000857726 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing
Invitae RCV002060988 SCV002388465 likely benign Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2024-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965517 SCV004781233 likely benign PEX26-related disorder 2020-05-27 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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