ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1449+14G>A

gnomAD frequency: 0.00022  dbSNP: rs373699154
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Total submissions: 3
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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 RCV000038685 SCV000062363 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing 1449+14G>A in intron 14 of NEBL: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 1/7020 European American chromosomes from a broad populati on by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). 14 49+14G>A in intron 14 of NEBL (allele frequency= 1/7020) **
GeneDx RCV000038685 SCV000513903 benign not specified 2015-04-13 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.
Invitae RCV002054711 SCV002450797 likely benign Primary dilated cardiomyopathy 2024-01-17 criteria provided, single submitter clinical testing

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