ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.1231-8C>T

gnomAD frequency: 0.00034  dbSNP: rs200594031
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526539 SCV000657755 likely benign Charcot-Marie-Tooth disease type 2 2024-10-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286405 SCV001472969 likely benign Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 2020-04-17 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.