ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.381T>C (p.Ala127=) (rs61754795)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000157764 SCV000212663 likely benign Hereditary cancer-predisposing syndrome 2014-07-01 criteria provided, single submitter clinical testing
Color RCV000157764 SCV000537390 benign Hereditary cancer-predisposing syndrome 2015-04-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178181 SCV000230195 benign not specified 2015-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000178181 SCV000170645 benign not specified 2013-10-24 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.
Genetic Services Laboratory, University of Chicago RCV000178181 SCV000595911 likely benign not specified 2016-07-13 criteria provided, single submitter clinical testing
Harris Lab, University of Minnesota RCV000119323 SCV000154182 not provided not provided no assertion provided not provided
Invitae RCV000119198 SCV000153939 benign Microcephaly, normal intelligence and immunodeficiency 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000178181 SCV000539868 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Multiple assertions in clinvar as benign for hereditary cancer predisposing syndrome and microcephaly with normal intelligence and immunodeficiency
PreventionGenetics RCV000178181 SCV000806439 benign not specified 2017-02-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000178181 SCV000601692 likely benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000119323 SCV000888340 likely benign not provided 2017-08-05 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000157764 SCV000788080 likely benign Hereditary cancer-predisposing syndrome 2017-09-21 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.