ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)

dbSNP: rs281875329
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
Genetic Services Laboratory, University of Chicago RCV000022427 SCV000593030 pathogenic Baraitser-winter syndrome 2 2015-12-02 criteria provided, single submitter clinical testing
OMIM RCV000022427 SCV000043716 pathogenic Baraitser-winter syndrome 2 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059730 SCV000091300 not provided not provided no assertion provided not provided
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000770804 SCV000902290 likely pathogenic Autosomal dominant nonsyndromic hearing loss 20 2019-02-26 no assertion criteria provided case-control
University of Washington Center for Mendelian Genomics, University of Washington RCV001291159 SCV001479541 likely pathogenic Lissencephaly 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.