ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2308+12C>T (rs727505335)

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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625308 SCV000744842 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156885 SCV000206606 likely benign not specified 2014-11-05 criteria provided, single submitter clinical testing c.2308+12C>T in intron 23 of MYBPC3: This variant is not expected to have clinic al significance because it is not located within the splice consensus sequence. It has been identified in 2/16,584 South Asian chromosomes by the Exome Aggregat ion Consortium (ExAC; http://exac.broadinstitute.org).

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.