ClinVar Miner

Submissions for variant NM_015557.3(CHD5):c.612dup (p.Ser205fs)

dbSNP: rs2100868745
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
Institute for Human Genetics, University Hospital Essen RCV001376656 SCV001478001 likely pathogenic Global developmental delay; Seizure 2021-01-18 criteria provided, single submitter clinical testing
OMIM RCV002246279 SCV002520564 pathogenic Parenti-mignot neurodevelopmental syndrome 2022-05-07 no assertion criteria provided literature only

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.