ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3039T>C (p.His1013=)

gnomAD frequency: 0.00003  dbSNP: rs770077297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551235 SCV000645528 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497156 SCV002807832 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 2022-01-25 criteria provided, single submitter clinical testing

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