ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.551+15C>T

gnomAD frequency: 0.00003  dbSNP: rs886049825
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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 RCV000288618 SCV000381070 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056332 SCV002457220 likely benign Peroxisome biogenesis disorder 2B 2023-11-27 criteria provided, single submitter clinical testing

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