ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.333G>A (p.Glu111=) (rs376455714)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162512 SCV000212904 likely benign Hereditary cancer-predisposing syndrome 2015-09-14 criteria provided, single submitter clinical testing
Invitae RCV000234289 SCV000287468 likely benign not provided 2019-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000441434 SCV000513853 likely benign not specified 2017-11-21 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.
Color RCV000162512 SCV000685773 likely benign Hereditary cancer-predisposing syndrome 2017-01-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000441434 SCV000917852 likely benign not specified 2019-08-29 criteria provided, single submitter 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.