ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu) (rs200546024)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000170941 SCV000050679 likely benign not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000170941 SCV001003120 likely benign not provided 2018-11-27 criteria provided, single submitter clinical testing
OMIM RCV000223954 SCV000280586 pathogenic Brugada syndrome 8 2012-10-09 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.