Submissions for variant NM_006393.3(NEBL):c.1861A>G (p.Ile621Val)

gnomAD frequency: 0.00532  dbSNP: rs79718972

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038692	SCV000062370	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Ile621Val in Exon 18 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 1.8% (66/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs79718972).
GeneDx	RCV000038692	SCV000170737	benign	not specified	2014-04-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463893	SCV000563544	benign	Primary dilated cardiomyopathy	2024-01-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038692	SCV003928278	likely benign	not specified	2023-04-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004717923	SCV005320516	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003964860	SCV004779917	benign	NEBL-related disorder	2019-02-21	no assertion criteria provided	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).