ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3291G>C (p.Arg1097=)

gnomAD frequency: 0.00001  dbSNP: rs1600177787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841382 SCV000983344 likely benign not provided 2018-04-16 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 RCV002536132 SCV003291123 likely benign Alagille syndrome due to a JAG1 point mutation 2023-03-11 criteria provided, single submitter clinical testing

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