ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.120A>G (p.Glu40=)

gnomAD frequency: 0.00009  dbSNP: rs397517203
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Total submissions: 5
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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 RCV000038683 SCV000062361 likely benign not specified 2012-09-24 criteria provided, single submitter clinical testing Glu40Glu in exon 2 of NEBL: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Glu40Glu in exon 2 of NEBL (allele frequency = n/a)
Invitae RCV000560836 SCV000623462 benign Primary dilated cardiomyopathy 2023-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000038683 SCV000728575 benign not specified 2015-09-24 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 RCV002354197 SCV002651970 likely benign Inborn genetic diseases 2022-06-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038683 SCV004038154 benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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