ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1773C>T (p.Leu591=)

gnomAD frequency: 0.00009  dbSNP: rs56328719
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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 RCV001394110 SCV001595792 likely benign Peroxisome biogenesis disorder 2024-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550105 SCV004708734 likely benign PEX6-related disorder 2021-05-26 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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