ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1680C>T (p.Pro560=)

gnomAD frequency: 0.00007  dbSNP: rs372998833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000967530 SCV001114919 benign Peroxisome biogenesis disorder 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943159 SCV004761768 likely benign PEX6-related condition 2019-11-04 criteria provided, single submitter 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).
Natera, Inc. RCV001827052 SCV002077300 likely benign Zellweger spectrum disorders 2019-10-24 no assertion criteria provided clinical testing

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