ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2913C>T (p.Asp971=)

gnomAD frequency: 0.00001  dbSNP: rs575423101
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Total submissions: 4
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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 RCV000151527 SCV000199643 likely benign not specified 2013-04-09 criteria provided, single submitter clinical testing Asp971Asp in exon 28 of NEBL: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Asp971Asp in exon 28 of NEBL (allele frequenc y = n/a)
Invitae RCV001516346 SCV001724616 benign Primary dilated cardiomyopathy 2023-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433652 SCV002745959 likely benign Inborn genetic diseases 2022-07-29 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000151527 SCV004038152 benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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