ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)

dbSNP: rs144204614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217867 SCV001389725 benign Alagille syndrome due to a JAG1 point mutation 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491678 SCV002797125 uncertain significance 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 2021-07-06 criteria provided, single submitter clinical testing

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