ClinVar Miner

Submissions for variant NM_003418.5(CNBP):c.156C>T (p.Asp52=)

dbSNP: rs4303883
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001588022 SCV001822087 benign Myotonic dystrophy type 2 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001685549 SCV001903922 benign not provided 2019-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685549 SCV005301812 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003983988 SCV004796250 benign CNBP-related disorder 2019-10-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.