ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)

gnomAD frequency: 0.00001  dbSNP: rs775241983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002943694 SCV003277500 benign Alagille syndrome due to a JAG1 point mutation 2025-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005028063 SCV005656257 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 2024-03-26 criteria provided, single submitter clinical testing

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