ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.624C>T (p.Pro208=)

gnomAD frequency: 0.00124  dbSNP: rs111854914
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Total submissions: 6
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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 RCV000151543 SCV000199672 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro208Pro in Exon 07 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 0.3% (12/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs111854914).
Invitae RCV000552190 SCV000623482 benign Primary dilated cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001711593 SCV001940686 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000151543 SCV002658681 likely benign not specified 2022-03-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000151543 SCV004038165 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965129 SCV004785646 likely benign NEBL-related disorder 2024-01-01 criteria provided, single submitter 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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