ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.273G>C (p.Ser91=)

dbSNP: rs532273900
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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 RCV002147742 SCV002416777 likely benign Peroxisome biogenesis disorder 9B 2023-02-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733482 SCV005342816 likely benign PEX7-related disorder 2024-03-26 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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