ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1925C>T (p.Pro642Leu)

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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 RCV004720581 SCV005328355 likely pathogenic X-linked agammaglobulinemia 2024-09-25 criteria provided, single submitter clinical testing

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