ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.552-10C>T

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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 RCV002824338 SCV003205666 likely benign Peroxisome biogenesis disorder 2B 2022-08-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134506 SCV003814860 uncertain significance not provided 2023-07-28 criteria provided, single submitter clinical testing

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