ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.669C>T (p.Gly223=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002584080 SCV002943037 likely benign Peroxisome biogenesis disorder 2B 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395491 SCV004134357 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PEX5: BP4, BP7

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