Submissions for variant NM_000214.3(JAG1):c.2559C>T (p.Ala853=)

gnomAD frequency: 0.00001  dbSNP: rs201234393

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153387	SCV000202875	benign	not specified	2017-05-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226892	SCV000283868	benign	Alagille syndrome due to a JAG1 point mutation	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001582625	SCV001819035	likely benign	not provided	2021-05-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426731	SCV002741142	likely benign	Cardiovascular phenotype	2022-08-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002498730	SCV002807159	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	2021-08-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001582625	SCV004149878	benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	JAG1: BP4, BP7, BS1, BS2