ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.1163C>A (p.Thr388Lys)

dbSNP: rs1568364117
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Medical Center Freiburg RCV000678415 SCV000804486 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.