ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2372+13T>A

gnomAD frequency: 0.00002  dbSNP: rs768213112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001875638 SCV002154676 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503493 SCV002811404 likely benign Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2021-10-29 criteria provided, single submitter clinical testing

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