ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2596A>G (p.Met866Val)

gnomAD frequency: 0.00016  dbSNP: rs746108409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002071249 SCV002329689 benign Alagille syndrome due to a JAG1 point mutation 2024-10-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438913 SCV004149877 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing JAG1: PP2, BP4

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