ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.4966+15T>C

gnomAD frequency: 0.00001  dbSNP: rs587784130
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
Genetic Services Laboratory, University of Chicago RCV003231251 SCV000194185 uncertain significance Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV003231251 SCV000782183 likely benign Sotos syndrome 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231251 SCV002055022 likely benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV003231251 SCV002441406 likely benign Sotos syndrome 2021-12-03 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.