ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.5A>G (p.Asp2Gly)

dbSNP: rs1556619319
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
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660264 SCV000782288 likely pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2016-11-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788711 SCV000927921 likely pathogenic not provided 2018-09-07 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.