ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3390G>A (p.Arg1130=)

gnomAD frequency: 0.00001  dbSNP: rs999720392
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000935743 SCV001470998 likely benign not provided 2019-12-13 criteria provided, single submitter clinical testing
Invitae RCV001391828 SCV001593459 likely benign Neurofibromatosis, type 1 2018-04-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001391828 SCV002560661 likely benign Neurofibromatosis, type 1 2022-03-15 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.