Submissions for variant NM_006393.3(NEBL):c.1962+7A>G

gnomAD frequency: 0.00036  dbSNP: rs371630900

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000437305	SCV000513904	benign	not specified	2015-09-10	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	RCV000457360	SCV000563549	likely benign	Primary dilated cardiomyopathy	2023-11-08	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000437305	SCV000710919	likely benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	c.1962+7A>G in Intron 19 of NEBL: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 55/125482 of European chromosomes by the Genome Aggregati on Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs371630900).
PreventionGenetics, part of Exact Sciences	RCV003922713	SCV004738854	likely benign	NEBL-related condition	2019-05-15	criteria provided, single submitter	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).