ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2584-9del

gnomAD frequency: 0.00034  dbSNP: rs886062504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000314730 SCV000470506 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001413944 SCV001616066 likely benign Zellweger spectrum disorders 2022-02-10 criteria provided, single submitter clinical testing

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