ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.363G>T (p.Leu121=)

gnomAD frequency: 0.00003  dbSNP: rs200866361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001454776 SCV001658515 likely benign Zellweger spectrum disorders 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753331 SCV005359875 likely benign PEX1-related disorder 2022-07-29 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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