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: 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 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:/ /; dbSNP rs71578975).
Invitae 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
PreventionGenetics, part of Exact Sciences RCV003917477 SCV004728183 benign NEBL-related disorder 2019-04-11 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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