ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.191A>G (p.Lys64Arg)

gnomAD frequency: 0.00786  dbSNP: rs71578975
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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 RCV000151547 SCV000199678 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Lys64Arg in Exon 03 of NEBL: This variant is not expected to have clinical sig nificance because it has been identified in 2.4% (91/3734) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs71578975).
Labcorp Genetics (formerly Invitae), Labcorp RCV000475502 SCV000563543 benign Primary dilated cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000151547 SCV000739901 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001682865 SCV001897048 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000151547 SCV004038158 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682865 SCV005227072 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003917477 SCV004728183 benign NEBL-related disorder 2019-04-11 no assertion criteria provided 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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