ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1861A>G (p.Ile621Val)

gnomAD frequency: 0.00532  dbSNP: rs79718972
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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 RCV000038692 SCV000062370 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ile621Val in Exon 18 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 1.8% (66/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs79718972).
GeneDx RCV000038692 SCV000170737 benign not specified 2014-04-28 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.
Invitae RCV000463893 SCV000563544 benign Primary dilated cardiomyopathy 2024-01-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038692 SCV003928278 likely benign not specified 2023-04-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003964860 SCV004779917 benign NEBL-related disorder 2019-02-21 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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