ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2227+9A>G

gnomAD frequency: 0.00002  dbSNP: rs763616526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829386 SCV000971110 likely benign not provided 2018-04-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001446920 SCV001649974 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829386 SCV005207361 likely benign not provided criteria provided, single submitter not provided

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