ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala)

gnomAD frequency: 0.00843  dbSNP: rs71535732
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Total submissions: 7
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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 RCV000038698 SCV000062376 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Thr728Ala in Exon 22 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 7.5% (9/120) of chromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs71 535732).
GeneDx RCV000038698 SCV000170741 benign not specified 2013-11-14 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.
Eurofins Ntd Llc (ga) RCV000038698 SCV000227942 benign not specified 2015-05-04 criteria provided, single submitter clinical testing
Invitae RCV000477652 SCV000563546 benign Primary dilated cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621280 SCV000739871 benign Cardiovascular phenotype 2012-08-10 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 RCV000038698 SCV003928272 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003974888 SCV004798665 benign NEBL-related disorder 2019-11-12 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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