ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2176T>C (p.Ser726Pro) (rs28932178)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715486 SCV000846315 benign History of neurodevelopmental disorder 2016-03-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082108 SCV000114054 benign not specified 2013-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082108 SCV000194106 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313455 SCV000456457 benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354270 SCV000456458 benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082108 SCV000314052 benign not specified 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.