ClinVar Miner

Submissions for variant NM_001615.4(ACTG2):c.-6C>T

gnomAD frequency: 0.76509  dbSNP: rs1050146
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
Genome-Nilou Lab RCV001548833 SCV001768808 benign Visceral myopathy 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549235 SCV001769346 benign Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001655870 SCV001862080 benign not provided 2018-11-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655870 SCV005240781 benign not provided criteria provided, single submitter not provided

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.