ClinVar Miner

Submissions for variant NM_000250.2(MPO):c.1711C>T (p.Arg571Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003388922 SCV004100814 likely pathogenic Myeloperoxidase deficiency 2023-11-02 criteria provided, single submitter clinical testing

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