ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2868T>A (p.Val956=)

gnomAD frequency: 0.00024  dbSNP: rs200663477
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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) RCV000732143 SCV000860053 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193611 SCV001362559 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001504524 SCV001709406 likely benign Zellweger spectrum disorders 2024-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001504524 SCV002076837 likely benign Zellweger spectrum disorders 2017-10-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003965534 SCV004778209 likely benign PEX1-related disorder 2019-10-25 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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