ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)

gnomAD frequency: 0.00001  dbSNP: rs534533867
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694563 SCV000823014 benign Alagille syndrome due to a JAG1 point mutation 2023-07-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732141 SCV000860051 uncertain significance not provided 2018-03-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477575 SCV002785785 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 2022-02-02 criteria provided, single submitter clinical testing

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