ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)

gnomAD frequency: 0.00002  dbSNP: rs750570683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001301911 SCV001491096 benign Alagille syndrome due to a JAG1 point mutation 2022-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486162 SCV002786639 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 2022-03-03 criteria provided, single submitter clinical testing

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