ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn)

gnomAD frequency: 0.00003  dbSNP: rs755047447
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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 RCV001977312 SCV002266815 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497926 SCV002778240 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 2022-02-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481232 SCV004225463 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing BS1

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