Submissions for variant NM_006393.3(NEBL):c.2148+4T>C

gnomAD frequency: 0.00035  dbSNP: rs193163659

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151534	SCV000199652	uncertain significance	not specified	2014-09-29	criteria provided, single submitter	clinical testing	The 2148+4T>C variant in NEBL has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 2/8600 European American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/) and 2/248 Hispanic chromosomes by the 1000 Genomes Project (dbSNP rs193163659). Thi s variant is located in the 5' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to ru le out pathogenicity. In summary, the clinical significance of the 2148+4T>C var iant is uncertain.
GeneDx	RCV000151534	SCV000534210	likely benign	not specified	2017-10-31	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.
Invitae	RCV000981761	SCV001129761	likely benign	Primary dilated cardiomyopathy	2023-08-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003415990	SCV004126532	benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	NEBL: BS1, BS2