ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.7673T>C (p.Leu2558Pro)

gnomAD frequency: 0.00001  dbSNP: rs1559098040
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
Uitto Lab, Thomas Jefferson University RCV000782387 SCV000920908 uncertain significance Autosomal recessive congenital ichthyosis 4B 2018-06-08 criteria provided, single submitter clinical testing
Narges Medical Genetic and Prenatal Diagnosis Lab RCV003327461 SCV004034998 uncertain significance Autosomal recessive congenital ichthyosis 4A 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. 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.