ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.141G>C (p.Pro47=)

gnomAD frequency: 0.00001  dbSNP: rs1464923917
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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 RCV000936868 SCV001082641 likely benign Peroxisome biogenesis disorder 2024-12-02 criteria provided, single submitter clinical testing

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