ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.539C>T (p.Thr180Ile) (rs61735396)

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 RCV000214625 SCV000269370 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr180Ile in exon 4 of MYOM1: This variant is not expected to have clinical sign ificance because it has been identified in 1.4% (56/3988) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http://; dbSNP rs61735396).
Invitae RCV000457291 SCV000561229 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621949 SCV000739825 benign Cardiovascular phenotype 2013-11-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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.