ClinVar Miner

Submissions for variant NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg) (rs587776456)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000144261 SCV000189421 pathogenic Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 2017-05-11 no assertion criteria provided literature only Pathogenic variant in stop codon 414 results in addition of 41 amino acids and use of new stop codon at residue 42
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003925 SCV001161881 likely pathogenic Thrombocytopenia no assertion criteria provided research

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.