ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser)

gnomAD frequency: 0.00021  dbSNP: rs200857848
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000944849 SCV001090831 benign Zellweger spectrum disorders 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942974 SCV004760169 likely benign PEX1-related condition 2023-10-20 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. RCV000944849 SCV002076914 likely benign Zellweger spectrum disorders 2021-07-29 no assertion criteria provided clinical testing

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