ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2113+1G>T

dbSNP: rs1294950721
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000708596 SCV000837723 pathogenic Alagille syndrome due to a JAG1 point mutation 2017-07-20 criteria provided, single submitter clinical testing

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