ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2137A>G (p.Ser713Gly) (rs116545275)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152023 SCV000200598 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ser690Gly in Exon 15 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 2.8% (105/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /; dbSNP rs116545275).
PreventionGenetics,PreventionGenetics RCV000152023 SCV000310673 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000907834 SCV001052562 benign not provided 2018-11-15 criteria provided, single submitter clinical testing

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.