ClinVar Miner

Submissions for variant NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter) (rs730882245)

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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162181 SCV000196467 likely pathogenic Dandy-Walker syndrome; Clubfoot; Micrognathia; Pleural effusion; Hydrocephalus; Flexed deformity 2014-12-01 no assertion criteria provided research
OMIM RCV000576897 SCV000678299 pathogenic ALKURAYA-KUCINSKAS SYNDROME 2015-01-13 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.