ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1917C>T (p.Asp639=) (rs12340440)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037070 SCV000060726 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Asp616Asp in Exon 14 of TJP2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 4.2% (157/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs12340440)."
PreventionGenetics,PreventionGenetics RCV000037070 SCV000310669 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000037070 SCV000726937 benign not specified 2018-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000713853 SCV000844491 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Invitae RCV000713853 SCV001123093 benign not provided 2019-12-31 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.