ClinVar Miner

Submissions for variant NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln)

gnomAD frequency: 0.00002  dbSNP: rs781410462
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV000656330 SCV000747775 likely pathogenic Cerebral arteriovenous malformation 2018-02-14 criteria provided, single submitter clinical testing

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.