ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2086+7G>C (rs727504940)

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
Invitae RCV000469625 SCV000560973 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2016-12-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156339 SCV000206057 likely benign not specified 2014-02-21 criteria provided, single submitter clinical testing c.2086+7G>C in intron 13 of JUP: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 208 6+7G>C in intron 13 of JUP ((allele frequency = n/a)

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.