ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.993C>T (p.Pro331=)

gnomAD frequency: 0.00001  dbSNP: rs1294629128
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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 RCV001407617 SCV001609594 likely benign Alagille syndrome due to a JAG1 point mutation 2022-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493963 SCV002795207 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 2022-01-25 criteria provided, single submitter clinical testing

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