ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2997A>G (p.Thr999=)

gnomAD frequency: 0.08806  dbSNP: rs2296614
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Total submissions: 5
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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 RCV000038702 SCV000062380 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Thr999Thr in Exon 28 of NEBL: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 12.4% (462/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs2296614).
GeneDx RCV000038702 SCV000170742 benign not specified 2014-01-17 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.
Ambry Genetics RCV002313733 SCV000739769 likely benign Inborn genetic diseases 2022-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001512732 SCV001720192 benign Primary dilated cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038702 SCV003928271 benign not specified 2023-04-10 criteria provided, single submitter clinical testing

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