ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1567T>C (p.Leu523=)

gnomAD frequency: 0.00158  dbSNP: rs144165818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079504 SCV000111386 uncertain significance not provided 2013-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082292 SCV001048368 likely benign Peroxisome biogenesis disorder 2B 2025-01-29 criteria provided, single submitter clinical testing

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