ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr)

dbSNP: rs1600184363
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yale Center for Mendelian Genomics, Yale University RCV000845196 SCV000987132 likely pathogenic Atypical coarctation of aorta 2018-02-26 no assertion criteria provided literature only

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