ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1721-2A>T

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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 Human Genetics, University of Leipzig Medical Center RCV003885404 SCV004698060 likely pathogenic Alagille syndrome due to a JAG1 point mutation 2024-02-09 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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