ClinVar Miner

Submissions for variant NM_030973.3(MED25):c.2088G>A (p.Leu696=) (rs371157406)

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 RCV000204546 SCV000262179 benign Charcot-Marie-Tooth disease, type 2 2020-11-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001780 SCV001159422 benign Basel-Vanagaite-Smirin-Yosef syndrome 2020-03-23 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173679 SCV001336781 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001310427 SCV001500215 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing
Institute of Human Genetics,University of Wuerzburg RCV000850336 SCV000992511 uncertain significance Polyneuropathy 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.