ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1008+15G>A

gnomAD frequency: 0.00004  dbSNP: rs375728589
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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 RCV000154794 SCV000204474 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.1008+15G>A in Intron 10 of NEBL: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1/7020 European American chromosomes from a broad popula tion by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;rs3 75728589).
GeneDx RCV000154794 SCV000532276 likely benign not specified 2017-08-23 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 RCV002514973 SCV003251825 likely benign Primary dilated cardiomyopathy 2023-09-10 criteria provided, single submitter clinical testing

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