ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1120+10A>G

gnomAD frequency: 0.00118  dbSNP: rs201711717
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433010 SCV000531524 likely benign not specified 2016-08-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000433010 SCV000703610 likely benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000645025 SCV000766764 benign Alagille syndrome due to a JAG1 point mutation 2025-01-15 criteria provided, single submitter clinical testing

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