ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.480+10C>A

dbSNP: rs377230358
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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 RCV000156707 SCV000206428 likely benign not specified 2014-07-24 criteria provided, single submitter clinical testing 480+10C>A in exon 5 of NEBL: This variant is not expected to have clinical signi ficance because it is not located within the splice consensus sequence.
GeneDx RCV000842185 SCV000984183 likely benign not provided 2018-04-17 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 RCV002053889 SCV002487060 likely benign Primary dilated cardiomyopathy 2022-04-28 criteria provided, single submitter clinical testing

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