ClinVar Miner

Submissions for variant NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)

gnomAD frequency: 0.66794  dbSNP: rs3184504
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
GeneDx RCV001667974 SCV001891065 benign not provided 2019-01-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26553438, 28628107, 29547645, 21909115, 26621817, 18311140, 20546165, 23222517, 24777453, 19820697, 19198610, 17554260, 24026423, 24482502, 20560212)
Fulgent Genetics, Fulgent Genetics RCV002488461 SCV002795933 benign Primary familial polycythemia due to EPO receptor mutation; Thrombocythemia 1; Primary myelofibrosis 2022-05-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001667974 SCV004562829 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001667974 SCV005231468 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.