Submissions for variant NM_006393.3(NEBL):c.656C>A (p.Ala219Asp)

gnomAD frequency: 0.01104  dbSNP: rs2296610

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038705	SCV000062383	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Ala219Asp in Exon 07 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 20.7% (17/82) of chromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs2 296610).
GeneDx	RCV000038705	SCV000170730	benign	not specified	2014-01-17	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	RCV000459277	SCV000563558	benign	Primary dilated cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621797	SCV000739877	benign	Cardiovascular phenotype	2013-04-02	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038705	SCV003928275	likely benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974890	SCV004795903	benign	NEBL-related disorder	2019-10-18	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).