ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.1676T>C (p.Val559Ala) (rs121913517)

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
Database of Curated Mutations (DoCM) RCV000437270 SCV000504176 likely pathogenic Cutaneous melanoma 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420045 SCV000504177 pathogenic Thymoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430728 SCV000504178 likely pathogenic Gastrointestinal stroma tumor 2016-05-13 no assertion criteria provided literature only
OMIM RCV000014879 SCV000035134 pathogenic Gastrointestinal stromal tumor, familial 2001-08-01 no assertion criteria provided literature only
OMIM RCV000663345 SCV000786616 pathogenic Cutaneous mastocytosis 2001-08-01 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.