ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.647G>A (p.Arg216His) (rs672601368)

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
Child and Family Research Institute RCV000207040 SCV000243780 pathogenic PEHO syndrome 2015-08-07 criteria provided, single submitter literature only
OMIM RCV000191021 SCV000245999 pathogenic Mental retardation, autosomal dominant 9 2015-06-01 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.