ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1308C>T (p.Cys436=)

gnomAD frequency: 0.00001  dbSNP: rs764485729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592331 SCV000707694 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
Invitae RCV001345958 SCV001540112 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000592331 SCV004149885 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing JAG1: BP4, BP7

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