Submissions for variant NM_000214.3(JAG1):c.2459-17A>C

gnomAD frequency: 0.00618  dbSNP: rs35891274

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245373	SCV000303015	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510191	SCV001717165	benign	Alagille syndrome due to a JAG1 point mutation	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001682963	SCV001899127	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500857	SCV002807637	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	2021-10-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001682963	SCV005312322	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000245373	SCV001926109	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000245373	SCV001968264	benign	not specified		no assertion criteria provided	clinical testing