ClinVar Miner

Submissions for variant NM_001105.5(ACVR1):c.772A>G (p.Arg258Gly) (rs863224846)

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
Database of Curated Mutations (DoCM) RCV000426913 SCV000505753 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437179 SCV000505754 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only
UCLA Clinical Genomics Center, UCLA RCV000198218 SCV000255317 likely pathogenic Progressive myositis ossificans 2012-11-27 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.