ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1720+16C>T

gnomAD frequency: 0.00006  dbSNP: rs374498402
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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 RCV001455465 SCV001659225 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501595 SCV002801840 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 2022-03-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704570 SCV005207365 likely benign not provided criteria provided, single submitter not provided

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