Submissions for variant NM_006393.3(NEBL):c.1008+8C>G

gnomAD frequency: 0.00054  dbSNP: rs376842299

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151539	SCV000199666	likely benign	not specified	2014-06-19	criteria provided, single submitter	clinical testing	1008+8C>G in intron 10 of NEBL: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 0.1% (3/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS).
GeneDx	RCV000151539	SCV000725768	likely benign	not specified	2017-12-19	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	RCV001521593	SCV001730958	benign	Primary dilated cardiomyopathy	2024-10-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927464	SCV004744027	likely benign	NEBL-related disorder	2019-09-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).