Submissions for variant NM_006393.3(NEBL):c.2964C>T (p.Asp988=)

gnomAD frequency: 0.00022  dbSNP: rs144946187

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001696841	SCV000535907	likely benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473372	SCV000563540	likely benign	Primary dilated cardiomyopathy	2023-11-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004022519	SCV002749141	likely benign	not specified	2022-05-16	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	RCV001696841	SCV004126530	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	NEBL: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001696841	SCV001929053	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001696841	SCV001955061	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001696841	SCV001969861	likely benign	not provided		no assertion criteria provided	clinical testing