ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1051A>G (p.Met351Val)

gnomAD frequency: 0.05741  dbSNP: rs4025981
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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 RCV000038677 SCV000062355 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Met351Val in Exon 11 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 8.3% (581/7020) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs4025981).
GeneDx RCV000038677 SCV000170733 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.
Ambry Genetics RCV000621023 SCV000739777 benign Cardiovascular phenotype 2012-09-26 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
Invitae RCV001517829 SCV001726408 benign Primary dilated cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038677 SCV003928281 likely benign not specified 2023-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974884 SCV004797386 benign NEBL-related disorder 2019-11-26 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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