ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.970G>A (p.Glu324Lys)

gnomAD frequency: 0.00010  dbSNP: rs201678533
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084956 SCV001058813 likely benign Peroxisome biogenesis disorder 2024-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676097 SCV004161629 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing PEX6: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000676097 SCV005223804 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676097 SCV000801837 uncertain significance not provided 2017-04-24 no assertion criteria provided clinical testing
Natera, Inc. RCV001276738 SCV001463266 likely benign Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004737946 SCV005360691 likely benign PEX6-related disorder 2024-08-19 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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