ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.74C>T (p.Thr25Ile)

gnomAD frequency: 0.23388  dbSNP: rs10485183
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
GeneDx RCV000419462 SCV000525623 benign not specified 2016-09-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001517053 SCV001725460 benign Ehlers-Danlos syndrome, musculocontractural type 2 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001517053 SCV001875708 benign Ehlers-Danlos syndrome, musculocontractural type 2 2021-07-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000419462 SCV001809592 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000419462 SCV001959746 benign not specified no assertion criteria provided 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.