ClinVar Miner

Submissions for variant NM_006663.4(PPP1R13L):c.1537del (p.Val513fs)

dbSNP: rs34338233
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Exeter Molecular Genetics Laboratory RCV001251083 SCV001426671 likely pathogenic Primary dilated cardiomyopathy 2020-06-10 criteria provided, single submitter clinical testing This variant, NM_001142502.1:c.1537del, was found in compound heterozygosity with the likely pathogenic variant NM_001142502.1:c.1219C>T.

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.