ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.349C>G (p.Arg117Gly)

dbSNP: rs752608779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001341202 SCV001535057 likely benign Alagille syndrome due to a JAG1 point mutation 2023-05-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499675 SCV002813464 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 2022-02-07 criteria provided, single submitter clinical testing

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