ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.2625G>A (p.Trp875Ter)

dbSNP: rs879253786
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
Institute of Human Genetics, Heidelberg University RCV000235009 SCV005440715 pathogenic Macrocephaly, dysmorphic facies, and psychomotor retardation 2024-05-22 criteria provided, single submitter clinical testing
OMIM RCV000235009 SCV000292374 pathogenic Macrocephaly, dysmorphic facies, and psychomotor retardation 2016-08-04 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.