ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.318C>G (p.Val106=)

gnomAD frequency: 0.00027  dbSNP: rs142072315
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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) RCV000729073 SCV000856709 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078816 SCV001053309 likely benign Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2024-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947916 SCV004764162 likely benign PEX26-related disorder 2019-10-28 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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