ClinVar Miner

Submissions for variant NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) (rs147962513)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437328 SCV000510591 benign not provided 2016-12-06 criteria provided, single submitter clinical testing
Department of Immunology, Genetics and Pathology, Uppsala University RCV000128478 SCV000114945 pathogenic Ectodermal dysplasia, 'pure' hair-nail type no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000128640 SCV000172275 pathogenic Ectodermal dysplasia 7, hair/nail type 2014-01-01 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.