ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2880+95A>G

gnomAD frequency: 0.07154  dbSNP: rs77236826
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037085 SCV000060742 benign not specified 2012-05-07 criteria provided, single submitter clinical testing His992Arg in Exon 19 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 6.9% (174/2532) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs77236826).
GeneDx RCV001689589 SCV001907167 benign not provided 2018-06-21 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.