ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) (rs112571971)

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 RCV000037095 SCV000060752 likely benign not specified 2013-02-05 criteria provided, single submitter clinical testing Gly538Glu in Exon 11 of PDZD7: This variant is not expected to have clinical sig nificance because it has been identified in 1.6% (3/186) of Finnish individuals from a broad population by the 1000 Genomes Project (rs112571971).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037095 SCV000334971 likely benign not specified 2015-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000969791 SCV000531016 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Invitae RCV000969791 SCV001117326 benign not provided 2020-11-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000969791 SCV001144891 benign not provided 2019-07-18 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.