ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.713G>A (p.Cys238Tyr)

dbSNP: rs2122620330
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001771809 SCV002011746 likely pathogenic Alagille syndrome due to a JAG1 point mutation 2021-06-01 no assertion criteria provided clinical testing

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