ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.2719-9C>A

gnomAD frequency: 0.00189  dbSNP: rs184247824
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175156 SCV000226592 uncertain significance not provided 2015-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000175156 SCV001197588 benign not provided 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000175156 SCV001815167 benign not provided 2021-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552968 SCV004748007 likely benign PDZD7-related disorder 2019-07-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.