ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del) (rs797045187)

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
Department of Internal Medicine, University of Texas Health Science Center at Houston RCV000191942 SCV000246189 likely pathogenic Moyamoya disease 2 2014-09-08 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001261747 SCV001439063 likely pathogenic Moyamoya angiopathy no assertion criteria provided research

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.