Submissions for variant NM_006393.3(NEBL):c.109T>C (p.Leu37=)

gnomAD frequency: 0.00213  dbSNP: rs140734883

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038678	SCV000062356	benign	not specified	2015-06-10	criteria provided, single submitter	clinical testing	p.Leu37Leu in exon 2 of NEBL: This variant is not expected to have clinical sign ificance because it has been identified in 1.3% (88/6594) of Finnish chromosomes , including 1 homozygote by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs140734883).
GeneDx	RCV000038678	SCV000236075	benign	not specified	2014-09-19	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.
Invitae	RCV000226777	SCV000289515	benign	Primary dilated cardiomyopathy	2024-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000038678	SCV002734634	likely benign	not specified	2022-05-24	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.
CeGaT Center for Human Genetics Tuebingen	RCV001701580	SCV004126538	benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	NEBL: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003914949	SCV004735783	benign	NEBL-related condition	2019-05-03	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701580	SCV001928885	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701580	SCV001975406	likely benign	not provided		no assertion criteria provided	clinical testing