ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)

dbSNP: rs553001596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660614 SCV000782731 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2017-08-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451234 SCV001654861 likely benign Zellweger spectrum disorders 2024-11-13 criteria provided, single submitter clinical testing

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