ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.656C>A (p.Ala219Asp)

gnomAD frequency: 0.01104  dbSNP: rs2296610
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038705 SCV000062383 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala219Asp in Exon 07 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 20.7% (17/82) of chromosomes from a population in the dbSNP database (; rs2 296610).
GeneDx RCV000038705 SCV000170730 benign not specified 2014-01-17 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 RCV000459277 SCV000563558 benign Primary dilated cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621797 SCV000739877 benign Cardiovascular phenotype 2013-04-02 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038705 SCV003928275 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974890 SCV004795903 benign NEBL-related disorder 2019-10-18 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).

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