ClinVar Miner

Submissions for variant NM_014762.4(DHCR24):c.281G>A (p.Arg94His)

gnomAD frequency: 0.00001  dbSNP: rs387906939
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
Baylor Genetics RCV000023540 SCV001519990 likely pathogenic Desmosterolosis 2019-11-07 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000023540 SCV000044831 pathogenic Desmosterolosis 2011-07-01 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.