ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.851+6C>T

gnomAD frequency: 0.00029  dbSNP: rs375043184
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227565 SCV000285671 likely benign Hypertrophic cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001719965 SCV000730241 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186661 SCV001353195 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154864 SCV000204546 not provided not specified 2013-08-29 no assertion provided 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.