ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1329G>A (p.Met443Ile)

gnomAD frequency: 0.00002  dbSNP: rs547676061
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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 RCV002008937 SCV002276123 likely benign Alagille syndrome due to a JAG1 point mutation 2024-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497970 SCV002802068 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 2022-05-03 criteria provided, single submitter clinical testing

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