ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.120G>C (p.Leu40=)

dbSNP: rs1000010346
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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 RCV001461885 SCV001665795 likely benign Alagille syndrome due to a JAG1 point mutation 2022-02-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501610 SCV002812936 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 2022-01-17 criteria provided, single submitter clinical testing

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