Submissions for variant NM_000214.3(JAG1):c.2301G>A (p.Thr767=)

gnomAD frequency: 0.00165  dbSNP: rs147634857

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235752	SCV000292741	likely benign	not specified	2016-03-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000235752	SCV000337838	likely benign	not specified	2015-12-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618019	SCV000735715	likely benign	Cardiovascular phenotype	2016-12-29	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861642	SCV001002015	benign	Alagille syndrome due to a JAG1 point mutation	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430798	SCV004149879	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	JAG1: BP4, BP7, BS1
Genetic Services Laboratory, University of Chicago	RCV000235752	SCV003839628	benign	not specified	2022-07-20	no assertion criteria provided	clinical testing