ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3762T>C (p.Ala1254=)

gnomAD frequency: 0.00008  dbSNP: rs375213175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000932766 SCV001078453 likely benign Zellweger spectrum disorders 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895670 SCV004714118 likely benign PEX1-related disorder 2022-11-11 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. RCV000932766 SCV002076053 likely benign Zellweger spectrum disorders 2017-11-16 no assertion criteria provided clinical testing

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