ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.233G>C (p.Cys78Ser)

dbSNP: rs1555830957
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV001007647 SCV001167338 not provided Alagille syndrome due to a JAG1 point mutation no assertion provided literature only

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