ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg)

dbSNP: rs2067299833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329702 SCV001521214 uncertain significance Alagille syndrome due to a JAG1 point mutation 2019-07-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Daryl Scott Lab, Baylor College of Medicine RCV001329702 SCV002515334 uncertain significance Alagille syndrome due to a JAG1 point mutation 2022-02-01 criteria provided, single submitter clinical testing

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