ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2595C>T (p.Cys865=)

gnomAD frequency: 0.00021  dbSNP: rs371450943
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 RCV000865895 SCV001006922 likely benign Spastic paraplegia 2024-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438514 SCV004166410 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing KDM5C: BP4, BP7, BS2

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.