ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.597C>A (p.Ala199=)

dbSNP: rs149788020
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 RCV000428275 SCV000516112 benign not specified 2015-06-19 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 RCV000469894 SCV000560913 benign Charcot-Marie-Tooth disease type 2 2025-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001282029 SCV001157867 benign Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 2020-04-30 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173674 SCV001336776 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703935 SCV005209886 likely benign not provided criteria provided, single submitter not provided

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.