ClinVar Miner

Submissions for variant NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) (rs104894816)

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
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852181 SCV000899853 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
OMIM RCV000011169 SCV000031396 pathogenic Thrombocytopenia, X-linked, without dyserythropoietic anemia 2001-07-01 no assertion criteria provided literature only
GeneReviews RCV000144258 SCV000189418 pathogenic Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 2017-05-11 no assertion criteria provided literature only

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.