ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.5045dup (p.Lys1683fs) (rs573184538)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629157 SCV000750073 likely benign Hypertrophic cardiomyopathy 2017-09-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214361 SCV000270572 likely benign not specified 2015-12-23 criteria provided, single submitter clinical testing p.Lys1683fs in exon 38 of MYOM1: This variant is predicted to cause a frameshift within the last exon and is predicted to result in a protein where the last few amino acids are replaced by different residues. This variant is not expected to have clinical significance because it has been identified in 0.3% (15/4502) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad; dbSNP rs573184538).

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.