ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1337A>G (p.His446Arg) (rs72468699)

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
GeneDx RCV000417379 SCV000235826 likely benign not specified 2017-11-13 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.
Ambry Genetics RCV000243647 SCV000320017 uncertain significance Cardiovascular phenotype 2015-09-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Blueprint Genetics RCV000157165 SCV000206889 uncertain significance Left ventricular noncompaction cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing
Blueprint Genetics RCV000157166 SCV000206890 uncertain significance Primary dilated cardiomyopathy 2014-09-29 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.