ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.99G>C (p.Pro33=)

dbSNP: rs1284941471
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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) RCV000595573 SCV000705734 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062059 SCV002424415 likely benign Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2024-12-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962694 SCV004782295 likely benign PEX26-related disorder 2021-06-01 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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