ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.225C>G (p.Ser75=)

gnomAD frequency: 0.00002  dbSNP: rs144667627
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 RCV000194368 SCV000247010 uncertain significance not specified 2015-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000842514 SCV000984537 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003741156 SCV004517297 likely benign Developmental and epileptic encephalopathy 94 2023-12-30 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.