ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6395A>T (p.Lys2132Ile)

gnomAD frequency: 0.00068  dbSNP: rs200769337
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 RCV000693272 SCV000821134 likely benign Early myoclonic encephalopathy 2025-02-02 criteria provided, single submitter clinical testing
Molecular Oncology - Human Genetics Lab, University of Sao Paulo RCV001843540 SCV002103136 uncertain significance Hepatoblastoma no assertion criteria provided research

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.