ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1729_1732dup (p.Cys578Ter)

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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 RCV004556114 SCV005045210 pathogenic Alagille syndrome due to a JAG1 point mutation 2024-05-23 criteria provided, single submitter clinical testing

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