ClinVar Miner

Submissions for variant NM_213569.2(NEBL):c.357T>C (p.Asn119=)

gnomAD frequency: 0.00720  dbSNP: rs115708584
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Total submissions: 2
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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 RCV000151551 SCV000199688 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Asn119Asn in Exon 04 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 2.5% (94/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs115708584).
GeneDx RCV000835169 SCV000976950 likely benign not provided 2018-06-19 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.

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