ClinVar Miner

Submissions for variant NM_002386.3(MC1R):c.274G>A (p.Val92Met) (rs2228479)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000278283 SCV000399946 benign Malignant Melanoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000015378 SCV000035639 association Skin/hair/eye pigmentation 2, red hair/fair skin 2006-04-01 no assertion criteria provided literature only
OMIM RCV000015379 SCV000035640 association Skin/hair/eye pigmentation 2, blond hair/fair skin 2006-04-01 no assertion criteria provided literature only
PreventionGenetics RCV000247471 SCV000308866 benign not specified 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.