ClinVar Miner

Submissions for variant NM_001743.6(CALM2):c.400G>C (p.Asp134His)

dbSNP: rs398124650
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
George Lab Vanderbilt University RCV000143839 SCV000114927 probable-pathogenic Long QT syndrome 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000162066 SCV000212099 pathogenic Long QT syndrome 15 2014-08-01 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.