ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1547C>G (p.Thr516Ser)

gnomAD frequency: 0.03270  dbSNP: rs41274074
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536091 SCV000632274 benign Early myoclonic encephalopathy 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV002060301 SCV002496205 benign not provided 2022-03-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002060301 SCV005315786 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003979962 SCV004792580 benign JMJD1C-related disorder 2019-03-21 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.