ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.4718G>A (p.Arg1573Gln) (rs117342470)

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 RCV000217979 SCV000269368 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Arg1573Gln in exon 37 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 4.5% (6/132) of Mexican chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.go v/projects/SNP; dbSNP rs117342470).
Invitae RCV000231050 SCV000288005 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621693 SCV000739880 benign Cardiovascular phenotype 2013-05-24 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.