ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.228C>T (p.Ser76=)

gnomAD frequency: 0.00001  dbSNP: rs968979207
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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 RCV002171317 SCV002427860 likely benign Peroxisome biogenesis disorder 2B 2024-01-13 criteria provided, single submitter clinical testing

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