ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2619_2621del (p.Gly874del)

dbSNP: rs111252008
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
Invitae RCV000539080 SCV000654699 benign Ehlers-Danlos syndrome, musculocontractural type 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001618732 SCV000714893 benign not provided 2018-04-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279359 SCV002565866 benign Ehlers-Danlos syndrome 2022-03-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980017 SCV004798102 benign DSE-related condition 2019-05-02 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneDx RCV001618732 SCV001843180 benign not provided 2017-05-31 flagged submission 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.