ClinVar Miner

Submissions for variant NM_003745.2(SOCS1):c.24del (p.Ala9fs)

dbSNP: rs2069587477
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
CeGaT Center for Human Genetics Tuebingen RCV002275331 SCV002563315 pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing SOCS1: PVS1:Strong, PM2, PP1:Moderate, PS4:Moderate, PS3:Supporting
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine RCV001254898 SCV001430914 likely pathogenic Autoimmune hemolytic anemia; Autoimmune thrombocytopenia 2020-01-01 no assertion criteria provided research
OMIM RCV001526870 SCV001737560 pathogenic Autoinflammatory syndrome with immunodeficiency 2021-06-17 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.