Submissions for variant NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)

gnomAD frequency: 0.00245  dbSNP: rs143584663

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038701	SCV000062379	likely benign	not specified	2015-07-30	criteria provided, single submitter	clinical testing	p.Ser885Phe in exon 26 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (226/66520) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs143584663).
GeneDx	RCV000038701	SCV000236100	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	RCV000228033	SCV000289527	likely benign	Primary dilated cardiomyopathy	2025-02-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038701	SCV004038159	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001727537	SCV004126531	benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	NEBL: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001727537	SCV005227058	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038701	SCV001930378	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727537	SCV001975837	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003934928	SCV004749650	likely benign	NEBL-related disorder	2021-02-03	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).