ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1720+17G>A

gnomAD frequency: 0.00008  dbSNP: rs371096301
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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 RCV001430848 SCV001633593 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501523 SCV002808385 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 2021-07-08 criteria provided, single submitter clinical testing

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