ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.4358T>C (p.Met1453Thr) (rs16944397)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213420 SCV000269364 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Met1453Thr in exon 32 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 15.1% (560/3712) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs16944397).
Invitae RCV000467301 SCV000561253 benign Hypertrophic cardiomyopathy 2017-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620926 SCV000739824 benign Cardiovascular phenotype 2012-12-10 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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.