ClinVar Miner

Submissions for variant NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr)

gnomAD frequency: 0.99456  dbSNP: rs6503640
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002191745 SCV002490844 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496123 SCV002800346 benign Epidermolysis bullosa simplex 1A, generalized severe; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex 1C, localized; Naegeli-Franceschetti-Jadassohn syndrome 2021-08-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002191745 SCV005248083 benign not provided criteria provided, single submitter not provided

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.