ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.505+5G>C (rs727503219)

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 RCV000497448 SCV000198972 likely pathogenic Hypertrophic cardiomyopathy 2019-01-18 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Center for Human Genetics,University of Leuven RCV000497448 SCV000579518 likely pathogenic Hypertrophic cardiomyopathy 2017-02-09 criteria provided, single submitter clinical testing ACMG score likely pathogenic
Blueprint Genetics RCV000788714 SCV000927924 likely pathogenic not provided 2018-09-11 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.