ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)

gnomAD frequency: 0.00001  dbSNP: rs747142039
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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 RCV001981850 SCV002209921 likely benign Alagille syndrome due to a JAG1 point mutation 2023-10-13 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV004584452 SCV002578058 uncertain significance See cases 2021-12-15 criteria provided, single submitter clinical testing ACMG categories: PM2,BP1
Fulgent Genetics, Fulgent Genetics RCV002484630 SCV002779465 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 2022-03-07 criteria provided, single submitter clinical testing

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