ClinVar Miner

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

gnomAD frequency: 0.00336  dbSNP: rs71578983
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Total submissions: 8
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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 RCV000038703 SCV000062381 likely benign not specified 2014-12-30 criteria provided, single submitter clinical testing c.480+3A>G in intron 5 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (303/67668) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs71578983).
GeneDx RCV000229652 SCV000236091 benign not provided 2020-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079614 SCV000289533 benign Primary dilated cardiomyopathy 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621845 SCV000739783 uncertain significance Cardiovascular phenotype 2013-05-27 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038703 SCV004803597 benign not specified 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000229652 SCV001928642 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000229652 SCV001968836 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003944921 SCV004774028 likely benign NEBL-related disorder 2019-07-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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