ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1885+12T>C

gnomAD frequency: 0.00011  dbSNP: rs377670685
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002091343 SCV002386525 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494185 SCV002804238 likely benign 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 2022-04-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700611 SCV005204774 likely benign not specified 2024-06-17 criteria provided, single submitter clinical testing

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