ClinVar Miner

Submissions for variant NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) (rs863223403)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Research Group, University of Calgary RCV000195291 SCV000223813 pathogenic AU-KLINE SYNDROME 2018-01-07 criteria provided, single submitter research
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000195291 SCV000266551 pathogenic AU-KLINE SYNDROME criteria provided, single submitter research
Fulgent Genetics,Fulgent Genetics RCV000195291 SCV000894480 likely pathogenic AU-KLINE SYNDROME 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000195291 SCV000249598 pathogenic AU-KLINE SYNDROME 2015-10-01 no assertion criteria provided literature only
GeneReviews RCV000195291 SCV000899162 pathogenic AU-KLINE SYNDROME 2019-04-16 no assertion criteria provided literature only This variant is predicted to result in a missense variant (p.Arg86His) but has been shown to cause a splicing defect and decreased protein production.

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.