ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.4615G>A (p.Glu1539Lys)

dbSNP: rs28940271
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
GeneDx RCV004719612 SCV005325497 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 12915478, 20849526, 32851342, 30916489, 36980989)
Fulgent Genetics, Fulgent Genetics RCV005024999 SCV005648876 likely pathogenic Autosomal recessive congenital ichthyosis 4A; Autosomal recessive congenital ichthyosis 4B 2024-06-25 criteria provided, single submitter clinical testing
OMIM RCV000002992 SCV000023150 pathogenic Autosomal recessive congenital ichthyosis 4A 2003-09-15 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.