ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.4498-10del

dbSNP: rs200890017
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082124 SCV000114070 benign not specified 2013-04-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082124 SCV000248330 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082124 SCV000314067 benign not specified criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV003231138 SCV000782180 likely benign Sotos syndrome 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001541523 SCV001759536 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231138 SCV002054870 benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV003231138 SCV002383250 benign Sotos syndrome 2022-11-03 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.