ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1233A>G (p.Lys411=)

gnomAD frequency: 0.00001  dbSNP: rs1464185706
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002899524 SCV003242921 likely benign Zellweger spectrum disorders 2024-12-09 criteria provided, single submitter clinical testing

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