ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)

gnomAD frequency: 0.00245  dbSNP: rs143584663
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Total submissions: 8
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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 RCV000038701 SCV000062379 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing p.Ser885Phe in exon 26 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (226/66520) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs143584663).
GeneDx RCV000038701 SCV000236100 likely benign not specified 2017-12-19 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.
Invitae RCV000228033 SCV000289527 likely benign Primary dilated cardiomyopathy 2024-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038701 SCV004038159 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727537 SCV004126531 benign not provided 2022-06-01 criteria provided, single submitter clinical testing NEBL: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003934928 SCV004749650 likely benign NEBL-related condition 2021-02-03 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).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000038701 SCV001930378 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727537 SCV001975837 likely benign not provided no assertion criteria provided clinical testing

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