ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.233G>A (p.Cys78Tyr)

dbSNP: rs1555830957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594072 SCV000707938 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing
GeneReviews RCV001007648 SCV001167339 not provided Alagille syndrome due to a JAG1 point mutation no assertion provided literature only

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