ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.31+36949C>T

gnomAD frequency: 0.01020  dbSNP: rs182597890
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
Eurofins Ntd Llc (ga) RCV000723492 SCV000112447 uncertain significance not provided 2014-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000225710 SCV000168141 benign not specified 2014-01-17 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000723492 SCV001159590 benign not provided 2022-04-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826742 SCV002093605 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-03-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004537357 SCV004730710 benign DMD-related disorder 2019-05-10 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.