ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3302T>C (p.Val1101Ala) (rs365990)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000037473 SCV000051571 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037473 SCV000061131 benign not specified 2011-09-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037473 SCV000308970 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000244685 SCV000317578 benign Cardiovascular phenotype 2015-06-16 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037473 SCV000740599 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037473 SCV001158911 benign not specified 2018-07-06 criteria provided, single submitter 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.