ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1396-27TC[6]

dbSNP: rs544547916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510131 SCV001717080 benign Alagille syndrome due to a JAG1 point mutation 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001712916 SCV001939807 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495784 SCV002795656 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 2022-01-08 criteria provided, single submitter clinical testing

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