ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1132G>C (p.Asp378His)

gnomAD frequency: 0.05503  dbSNP: rs41277370
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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 RCV000038680 SCV000062358 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Asp378His in Exon 12 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 8.2% (578/7018) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs41277370).
GeneDx RCV000038680 SCV000170735 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 RCV000620002 SCV000739776 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 RCV001517828 SCV001726407 benign Primary dilated cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038680 SCV003928268 likely benign not specified 2023-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974885 SCV004799573 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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