ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val)

dbSNP: rs1586660389
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001261962 SCV001439316 pathogenic Nicolaides-Baraitser syndrome 2020-09-02 criteria provided, single submitter clinical testing
Fondazione Telethon, Telethon Institute of Genetics and Medicine RCV001029744 SCV001169156 likely pathogenic Intellectual disability no assertion criteria provided 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.