ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter)

dbSNP: rs1585248089
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004517 SCV001163562 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B criteria provided, single submitter clinical testing

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