Submissions for variant NM_006393.3(NEBL):c.191A>G (p.Lys64Arg)

gnomAD frequency: 0.00786  dbSNP: rs71578975

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151547	SCV000199678	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Lys64Arg in Exon 03 of NEBL: This variant is not expected to have clinical sig nificance because it has been identified in 2.4% (91/3734) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs71578975).
Invitae	RCV000475502	SCV000563543	benign	Primary dilated cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312984	SCV000739901	likely benign	Inborn genetic diseases	2016-03-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV001682865	SCV001897048	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000151547	SCV004038158	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917477	SCV004728183	benign	NEBL-related condition	2019-04-11	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).