ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)

gnomAD frequency: 0.00002  dbSNP: rs758876727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730832 SCV000858596 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855645 SCV002224003 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493329 SCV002778624 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 2022-02-12 criteria provided, single submitter clinical testing

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