ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)

gnomAD frequency: 0.00175  dbSNP: rs150046979
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000380106 SCV000333082 likely benign not specified 2015-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000946950 SCV001093109 likely benign Peroxisome biogenesis disorder 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001576141 SCV001803270 likely benign not provided 2020-08-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001576141 SCV004227237 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing BS1
Breakthrough Genomics, Breakthrough Genomics RCV001576141 SCV005223801 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004547662 SCV004745741 likely benign PEX6-related disorder 2019-12-11 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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