ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.386A>G (p.Gln129Arg)

dbSNP: rs1851242529
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
Baylor Genetics RCV001329395 SCV001520830 uncertain significance Costello syndrome 2020-08-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001329395 SCV002121266 likely benign Costello syndrome 2022-04-08 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV005225372 SCV005871299 uncertain significance HRAS-related disorder 2024-01-01 criteria provided, single submitter clinical testing PM2, PP3

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.