ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.440-173C>T

gnomAD frequency: 0.45420  dbSNP: rs2273061
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645027 SCV000766766 benign Alagille syndrome due to a JAG1 point mutation 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001662699 SCV001874329 benign not provided 2018-09-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20096396)

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