Submissions for variant NM_006393.3(NEBL):c.489T>C (p.Tyr163=)

gnomAD frequency: 0.00014  dbSNP: rs141153708

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218154	SCV000270613	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Tyr163Tyr in Exon 06 of NEBL: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/3738 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs141153708).
GeneDx	RCV000218154	SCV000527767	likely benign	not specified	2016-05-12	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	RCV000470967	SCV000563548	likely benign	Primary dilated cardiomyopathy	2024-01-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003929896	SCV004741152	likely benign	NEBL-related disorder	2019-09-17	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).