ClinVar Miner

Submissions for variant NM_004813.4(PEX16):c.262G>A (p.Val88Met)

gnomAD frequency: 0.00009  dbSNP: rs567165324
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597515 SCV000704048 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087648 SCV001035361 likely benign Peroxisome biogenesis disorder 2025-01-23 criteria provided, single submitter clinical testing
Elsea Laboratory, Baylor College of Medicine RCV001250061 SCV001424264 uncertain significance Peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B 2020-04-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000597515 SCV003814848 uncertain significance not provided 2019-05-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945398 SCV004760022 likely benign PEX16-related disorder 2022-12-07 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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