Submissions for variant NM_006393.3(NEBL):c.2013G>A (p.Pro671=)

gnomAD frequency: 0.00004  dbSNP: rs781677922

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000468020	SCV000563545	likely benign	Primary dilated cardiomyopathy	2023-12-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001637049	SCV001849009	likely benign	not provided	2019-08-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004023093	SCV002720308	likely benign	not specified	2022-04-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences	RCV003932771	SCV004751921	likely benign	NEBL-related disorder	2019-06-25	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).