ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.11C>T (p.Pro4Leu)

gnomAD frequency: 0.00501  dbSNP: rs114918858
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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 RCV000038681 SCV000062359 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro4Leu in Exon 01 of NEBL: This variant is not expected to have clinical sign ificance because it has been identified in 1.3% (49/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs114918858).
Eurofins Ntd Llc (ga) RCV000038681 SCV000224517 benign not specified 2015-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000038681 SCV000236074 benign not specified 2014-08-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000229625 SCV000289516 benign Primary dilated cardiomyopathy 2025-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038681 SCV004038163 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717921 SCV005320543 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003944920 SCV004772607 benign NEBL-related disorder 2019-02-21 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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