ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.933C>T (p.Asp311=)

dbSNP: rs1446059699
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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 RCV002179719 SCV002338999 likely benign Peroxisome biogenesis disorder 2B 2024-02-23 criteria provided, single submitter clinical testing

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