ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.1458A>G (p.Lys486=)

gnomAD frequency: 0.00014  dbSNP: rs192003514
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192941 SCV000247918 uncertain significance not specified 2015-06-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726801 SCV000703142 uncertain significance not provided 2016-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000726801 SCV001061089 benign not provided 2024-03-17 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.