ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1638C>A (p.Asp546Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005032474 SCV005656311 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 2023-12-25 criteria provided, single submitter clinical testing

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