ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.2394C>T (p.Ile798=) (rs55789615)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246327 SCV000303055 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381954 SCV000449895 likely benign Gastrointestinal stroma tumor 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287834 SCV000449896 likely benign Mastocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347445 SCV000449897 likely benign Partial albinism 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000381954 SCV000560703 benign Gastrointestinal stroma tumor 2017-08-14 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.