ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1728T>C (p.Asp576=)

gnomAD frequency: 0.00019  dbSNP: rs1528182
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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 RCV000154792 SCV000204472 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Asp576Asp in Exon 17 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.
GeneDx RCV000154792 SCV000516178 benign not specified 2015-06-26 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 RCV000463985 SCV000563550 benign Primary dilated cardiomyopathy 2023-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000154792 SCV002713712 likely benign not specified 2022-03-03 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.
PreventionGenetics, part of Exact Sciences RCV003952765 SCV004775953 likely benign NEBL-related disorder 2019-03-15 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154792 SCV005039036 benign not specified 2024-03-30 criteria provided, single submitter clinical testing

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