ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.234C>T (p.Ile78=)

dbSNP: rs1393400015
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
Color Diagnostics, LLC DBA Color Health RCV001525301 SCV001735360 likely benign Cardiomyopathy 2021-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771600 SCV004577856 likely benign Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2023-09-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008833 SCV004844858 likely benign Hypertrophic cardiomyopathy 2023-11-30 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.