ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2301-5_2301-2del

dbSNP: rs748032659
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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) RCV000728260 SCV000855810 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001469786 SCV001673874 likely benign Peroxisome biogenesis disorder 2024-12-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547918 SCV004719818 likely benign PEX6-related disorder 2022-08-18 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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